The leaf angle in waxy corn is a significant trait for breeding corn with compact plant type, which is beneficial to improve yield. According to the Griffing method II, the GCA （general combining ability） and SCA （...The leaf angle in waxy corn is a significant trait for breeding corn with compact plant type, which is beneficial to improve yield. According to the Griffing method II, the GCA （general combining ability） and SCA （specific combining ability） of leaf angle trait in the 7 waxy corn inbred lines and 21 combinations were esti-mated, and the genetic characteristics of leaf angle in corn were also analyzed. The results showed that among the 7 inbred lines, the GCA values ranked as N22 〉N8 〉 N28 〉 N7 〉 N23 〉 N27 〉 N4. The GCA of N27 showed great negative ef-fect, and the genetic variance of its SCA was lower. It suggested that the N27 can be used as an ideal parent for breeding excel ent combinations with smal leaf angle and compact plant type. The inheritance of leaf angle trait in waxy corn is in ac-cordance with the model of ＂additive - dominant - epistatic＂. The efficiency of leaf angle trait is control ed by recessive genes. The broad heritability of leaf angle trait in waxy corn is relative low （68.5%）, but its narrow heritability is relatively high （72.62%）. In the breeding practices, the early-generation selection is more suitable for the leaf angel trait.展开更多
A total of 10 Tricholoma matsutake strains isolated from Yajiang County, Sichuan Province of China were analyzed by using AFLP technique. The results showed that the genetic characteristics of Tricholoma matsutake str...A total of 10 Tricholoma matsutake strains isolated from Yajiang County, Sichuan Province of China were analyzed by using AFLP technique. The results showed that the genetic characteristics of Tricholoma matsutake strains can be properly revealed by AFLP, and among the 10 Tricholoma matsutake strains, the genetic aspects were very similar. At the level of 90% similarity, all the strains collected together, and at the similarity of 92 % , three AFLP groups formed. Simultaneously, the effects of quantity of the primers on the second AFLP PCR were determined. The optimal quantity of Eco +1/Mse+1, Eco + 2/Mse + 2 and Eco + 3/ Mse+3 primer pairs used in the AFLP was 1 pmol/5 pmol, 0. 6 pmol/10 pmol and 0.1 pmol/8 pmol, respectively.展开更多
Objective:The investigation of the correlation between ecological factors and the genetic characteristics or metabolites of plants offers valuable insights into the regional causes of genetic and metabolic diversity.H...Objective:The investigation of the correlation between ecological factors and the genetic characteristics or metabolites of plants offers valuable insights into the regional causes of genetic and metabolic diversity.Here,Gastrodia elata,a medicinal plant,is employed as a model to explore the environmental factors that influence its genetic characteristics and metabolic accumulations.Methods:A total of 23 G.elata populations from six cultispecies and 11 cultivated regions were selected based on the predictions of the global geographic information system.The genetic characteristics of these populations were evaluated using highly polymorphic simple sequence repeat markers.Additionally,the metabolic accumulations and antioxidant capacity of mature tubers were measured employing colorimetry and high performance liquid chromatography(HPLC).Ecological data of each region were obtained from the World Clim-global climate database and harmonized world soil database.To assess the influence of ecological factors on the genetic characteristics and metabolic profiles of G.elata,Pearson's correlation analysis was conducted.Results:Genetic variation among G.elata populations exceeded that within populations.Genetic diverisity,distance and structure manifested regional and species-specific patterns.Metabolic profiling and antioxidant capacity exhibited regional variations.Notably,the Lueyang region demonstrated that a content range of total polysaccharide,total protein,and phenolic glycosides was 9.34%-189.67%higher than the average.Similarly,in the Hubei region,total phenolic content,p-hydroxybenzyl alcohol content,and antioxidant indicators were observed to be higher than the average levels,by 106.57%,136.47%and12.50%-91.14%,respectively.Furthermore,ecological factors had a significant comprehensive impact on G.elata genetic characteristics(r>0.256 and P<0.05).Multivariate metabolite accumulations in G.elata were influenced by dominant ecological factors.Temperature notably impacted the accumulation of total protein(|r|>0.528 and P<0.05).Moisture,encompassing precipitation and soil content,significantly affected the production of phenolic glycosides(|r|>0.503 and P<0.05).Conclusion:The genetic characteristics of G.elata manifested regional and species-specific patterns,with the metabolic accumulations and antioxidant capacity of mature tubers exhibited regional variations.Specifically,multivariate ecological factors comprehensively influenced genetic characteristics.Temperature and moisture played pivotal roles in regulating the accumulations of proteins and phenolic glycosides,respectively.These findings underscore the significant impact of ecological factors on the shaping of G.elata,highlighting their crucial role in enhancing the quality of Chinese medicinal materials.展开更多
Objective To investigate the clinical and genetic characteristics of spinal muscular atrophy(SMA)patients with SMNI gene compound heterozygous mutations.Methods Three SMA-II pedigrees treated in Henan Provincial Peopl...Objective To investigate the clinical and genetic characteristics of spinal muscular atrophy(SMA)patients with SMNI gene compound heterozygous mutations.Methods Three SMA-II pedigrees treated in Henan Provincial People's Hospital from October 2019 to July 2020 were selected.The clinical data of 3 SMA-II probands were retrospectively analyzed.Multiplex ligationdependent probe amplification(MLPA)technology was used to detect the copy number of the SMN gene in the probands and their parents.Polymerase chain reaction amplification combined with microfluidic capillary electrophoresis were used to detect point mutations in the SMNI gene of the probands.Sanger sequencing was used to validate candidate variant sites.Results The 3 probands are all male,aged 19,17 and 12 years,respectively.The main clinical manifestations were symmetrical muscle weakness mainly in the proximal lower limbs,mild to moderate elevation of serum creatine kinase,and neurogenic injury as determined by electromyography or muscle pathology.The genetic testing results showed that all 3 probands had heterozygous deletion in exon 7 of the SMNI gene,and carried heterozygous variations c.275G>A(p.Trp92),c.689C>T(p.Ser230Leu),and c.708dupT(p.Pro237Serfs 19),respectively.The exon deletion and point mutation were inherited separately from their parents.c.275G>A(p.Trp92)and c.708dupT(p.Pro237Serfs 19)variations had not been reported before.Conclusion The clinical manifestations of SMAII patients are symmetrical muscle weakness,mainly in the proximal extremities of both lower limbs,and electromyography or muscle biopsy suggesting neurogenic lesions.The compound heterozygous variation of point mutation and heterozygous deletion in the SMNI gene can lead to SMA-II.Suspected SMA patients with SMNI gene heterozygous deletion should take point mutation testing.展开更多
Human bocavirus(HBoV)is a common respiratory virus among patients with acute respiratory infection(ARI).To investigate the prevalence and genetic characteristics of HBoV,clinical specimens from 13,109 ARI patients wer...Human bocavirus(HBoV)is a common respiratory virus among patients with acute respiratory infection(ARI).To investigate the prevalence and genetic characteristics of HBoV,clinical specimens from 13,109 ARI patients were collected through active surveillance from 12 provinces of China during 2012-2021.Extracted nucleic acid was screened and the viral protein 1(VP1)gene was directly amplified and sequenced in HBoV-positive specimens.3.51%of patients were HBoV-positive,with children under 5 years old accounting for 93.48%of cases.HBoV detection rate increased from 2.35%in 2012-2019 to 5.38%in 2020 and 7.68%in 2021,with a pronounced increase in children aged 2-4 years and in Southern China.The age group with the highest detection rate shifted from infants under 2 years in 2012-2019 to children aged 2-4 years in 2020-2021.The proportion of HBoV co-detections increased significantly in 2020-2021,from 43.98%to over 60.00%.All HBoV cases were identified as HBoV-1 with 165 full length sequences of VP1 gene obtained.No temporal or geographic clustering was observed.The VP1 gene evolved at a rate of 7.99×10^(−5)substitutions/site per year,withω-value less than 1,indicating that the VP1 protein was under negative selection pressure.Multiple antigen-associated amino acid mutations and positive selection sites were found in the VP1 protein.In conclusion,HBoV1 remains a major cause of pediatric ARI in China,but its epidemic pattern exhibited dynamic shifts during the coronavirus disease 2019 pandemic,while the viral genetic evolution remained relatively stable.展开更多
This paper comprehensively analyses the first-ever monkeypox outbreak in Shenzhen,China,encompassing clinical symptomatology,therapeutic approaches,epidemiological research,and comprehensive laboratory tests,aiming to...This paper comprehensively analyses the first-ever monkeypox outbreak in Shenzhen,China,encompassing clinical symptomatology,therapeutic approaches,epidemiological research,and comprehensive laboratory tests,aiming to establish a robust reference for future monkeypox mitigation and management strategies.The investigation involved a thorough investigation of all identified positive cases,including extensive molecular analysis by nucleic acid detection and whole-genome sequencing of the monkeypox virus.Contact tracing and containment of the infected individuals were also undertaken.Three distinct monkeypox cases were identified in this unique outbreak,exhibiting mild and atypical clinical manifestations,primarily fever and rash.All cases were associated with a single transmission chain,primarily facilitated through close contact and homosexual behavior,indicative of a high-risk factor for monkeypox transmission.展开更多
Challenges arise in global viticulture due to low temperatures.To ensure the sustainable and high-quality development of the wine industry,it is essential to breed wine grape varieties that are not only of high qualit...Challenges arise in global viticulture due to low temperatures.To ensure the sustainable and high-quality development of the wine industry,it is essential to breed wine grape varieties that are not only of high quality but also possess cold hardiness.Intraspecific recurrent selection in Vitis vinifera can enhance cold hardiness while maintaining fruit quality.In this study,we used‘Ecolly’as an intermediary grape variety for crossing with‘Cabernet Sauvignon’,‘Marselan’,and‘Dunkelfelder’,including three reciprocal crosses and a total of 1,657 intraspecific hybrids.We characterized the cold hardiness of these intraspecific hybrids and analyzed the genetic aspects of cold hardiness,ultimately identifying excellent strains with cold hardiness.Parameters like mean high-temperature exotherm(mHTE),mean low-temperature exotherm(mLTE),bound/free water ratio,water loss ratio in vitro,frost damage grades,and overall performance displayed partially normal distributions.In intraspecific hybrids,there was a maternal advantage in traits related to bound/free water ratio and water loss ratio.Some hybrid populations exhibited values for mHTE,mLTE,and water loss ratio that were lower than the low parent's values,while bound/free water ratio showed values higher than the high parent's values.Among the 1,657 intraspecific hybrids,52 strains could bud under stress at-18℃,and seven of these strains excelled in three important cold hardiness measures.Our study revealed that cold hardiness in V.vinifera is influenced by multiple genes and is a quantitative trait.Intraspecific hybridization can produce a small number of superior strains with enhanced cold hardiness.展开更多
Human adenovirus type 108(HAdV-108)has been detected in multiple countries,including China,and is associated with severe acute respiratory infection(ARI)in children,with reported fatalities.However,studies on HAdV-108...Human adenovirus type 108(HAdV-108)has been detected in multiple countries,including China,and is associated with severe acute respiratory infection(ARI)in children,with reported fatalities.However,studies on HAdV-108 remain limited.This study aimed to investigate the clinical and genetic characteristics of HAdV-108 in ARI children in China.From 2014 to 2024,6720 respiratory samples were collected from hospitalized children with ARI at ten hospitals across northern and southern China,of which 505(7.51%)tested positive for HAdV.The whole-genome and three major capsid protein genes were amplified and sequenced for bioinformatics analysis,which revealed that among 317 HAdV-isolated samples,21(6.62%)were identified as HAdV-108,ranking third after HAdV-114 and HAdV-7.Clinical analysis of HAdV-108-positive cases showed that the main manifestations were cough and fever.Seven children had gastrointestinal symptoms,and two children without underlying diseases were diagnosed with severe pneumonia.Phylogenetic analysis of wholegenome sequences revealed distinct predominant epidemic branches between domestic and international strains,with one strain obtained in this study forming an independent branch.Hexon protein exhibited the fastest evolution rate,lowest identity,and greatest amino acid variability,while fiber protein displayed the slowest evolution rate,highest identity,and greatest conservation and stability.Compared with the earliest reported HAdV-108 strain,three amino acid deletions were identified in the RGD loop region of penton base protein,resulting in potential structural change.Recombination analysis identified five distinct recombination patterns.In vitro experiments demonstrated that HAdV-108 had proliferation capacity comparable to other species C adenoviruses.In summary,HAdV-108 has persistently circulated in China,causing severe ARIs and concurrent gastrointestinal manifestations.Cluster3 was the predominant epidemic branch in China.HAdV-108 exhibited significant intratype genetic variation,with random and diverse recombination events.展开更多
The genetic diversity of wild and hatchery populations of half-smooth tongue sole Cynoglossus semilaevis, based on observation of amplified fragment length polymorphism (AFLP) was described. Two hundred individuals fr...The genetic diversity of wild and hatchery populations of half-smooth tongue sole Cynoglossus semilaevis, based on observation of amplified fragment length polymorphism (AFLP) was described. Two hundred individuals from four wild populations, Laizhou (LZ), Weihai (WH), Qingdao (QD), Rizhao (RZ), and one hatchery population, Mingbo (MB), were screened using eight different AFLP primer combinations. A total of 384 loci were screened in the five studied populations. 48.4%, 51.3%, 50.7%, 49.3% and 45.8% of these loci were polymorphic among the individuals tested in the LZ, WH, QD, RZ and MB populations, respectively. The number of polymorphic loci detected by single primer combinations ranged from 17 to 35. The average heterozygosity of the LZ, WH, QD, RZ and MB populations was 0.072, 0.093, 0.092, 0.090 and 0.063, respectively. The WH population showed the highest genetic diversity in terms of total number of AFLP bands, total number of polymorphic bands, average heterozygosity and percentage of low frequency (0-0.2) polymorphic loci among all the populations, while the LZ population was the lowest among the wild populations. Compared with the wild populations, the hatchery population showed a low genetic viability.展开更多
In the second member of the Upper Triassic Xujiahe Formation(T_(3)x_(2))in the Xinchang area,western Sichuan Basin,only a low percent of reserves has been recovered,and the geological model of gas reservoir sweet spot...In the second member of the Upper Triassic Xujiahe Formation(T_(3)x_(2))in the Xinchang area,western Sichuan Basin,only a low percent of reserves has been recovered,and the geological model of gas reservoir sweet spot remains unclear.Based on a large number of core,field outcrop,test and logging-seismic data,the T_(3)x_(2) gas reservoir in the Xinchang area is examined.The concept of fault-fold-fracture body(FFFB)is proposed,and its types are recognized.The main factors controlling fracture development are identified,and the geological models of FFFB are established.FFFB refers to faults,folds and associated fractures reservoirs.According to the characteristics and genesis,FFFBs can be divided into three types:fault-fracture body,fold-fracture body,and fault-fold body.In the hanging wall of the fault,the closer to the fault,the more developed the effective fractures;the greater the fold amplitude and the closer to the fold hinge plane,the more developed the effective fractures.Two types of geological models of FFFB are established:fault-fold fracture,and matrix storage and permeability.The former can be divided into two subtypes:network fracture,and single structural fracture,and the later can be divided into three subtypes:bedding fracture,low permeability pore,and extremely low permeability pore.The process for evaluating favorable FFFB zones was formed to define favorable development targets and support the well deployment for purpose of high production.The study results provide a reference for the exploration and development of deep tight sandstone oil and gas reservoirs in China.展开更多
Uveal and conjunctival melanomas are relatively rare tumors;nonetheless,they pose a significant risk of mortality for a large number of affected individuals.The pathogenesis of melanoma at different sites is very simil...Uveal and conjunctival melanomas are relatively rare tumors;nonetheless,they pose a significant risk of mortality for a large number of affected individuals.The pathogenesis of melanoma at different sites is very similar,however,the prognosis for patients with ocular melanoma remains unfavourable,primarily due to its distinctive genetic profile and tumor microenvironment.Regardless of considerable advances in understanding the genetic characteristics and biological behaviour,the treatment of uveal and conjunctival melanoma remains a formidable challenge.To enhance the prospect of success,collaborative efforts involving medical professionals and researchers in thefields of ocular biology and oncology are essential.Current data show a lack of well-designed randomized clinical trials and limited benefits in current forms of treatment for these tumors.Despite advancements in the development of effective melanoma therapeutic strategies,all current treatments for uveal melanoma(UM)and conjunctival melanoma(CoM)remain unsatisfactory,resulting in a poor long-term prognosis.Ongoing trials offer hope for positive outcomes in advanced and metastatic tumors.A more comprehensive understanding of the genetic and molecular abnormalities involved in the development and progression of ocular melanomas opens the way for the development of personalized therapy,with various potential therapeutic targets currently under consideration.Increased comprehension of the molecular pathogenesis of UM and CoM and their specificities may aid in the development of new and more effective systemic therapeutic agents,with the hope of improving the prognosis for patients with metastatic disease.展开更多
The morphological similarities of Pampus fishes have led to considerable confusion in species-level identification,and no accurate information on neotype or DNA barcoding of Pampus echinogaster is available. Two hundr...The morphological similarities of Pampus fishes have led to considerable confusion in species-level identification,and no accurate information on neotype or DNA barcoding of Pampus echinogaster is available. Two hundred and seven specimens of P. echinogaster were collected from the coastal waters of Dandong, Dongying, Qingdao,Nantong, Zhoushan, Wenzhou, Changle, Taiwan, and Wakayama（Japan）, from June 2010 to April 2013. The diagnostic characteristics of P. echinogaster are as follows： dorsal fin VIII-XI-43–51, anal fin V-VIII-43–49, pectoral fin 22–27, caudal fin 19–22, pelvic fin absent; first gill rakers sparse, slender（pointed）, 3–4＋12–16=15–20; vertebrae39–41; transverse occipital canal on top of head moderately small, wavy ridges not reaching upper origin of pectoral fin; ventral branch of lateral line canal spare, shorter than dorsal branch of lateral line canal. By combining congener sequences of the cytochrome oxidase I（COI） gene from Gen Bank, two absolute groups were detected among all specimens, which further indicated that two valid species were present based on genetic differences in amino acid sequences and the distance between the groups. The sequences of Group 1 can be regarded as DNA barcoding of P. echinogaster. The correct morphological redescription and DNA barcoding of P.echinogaster are presented here to provide a guarantee for efficient and accurate studies, a theoretical basis for classification, and enable appropriate fishery management and conservation strategies for the genus Pampus in the future.展开更多
Objective This study aims to investigate the prevalence of familial cerebral cavernous malformations(FCCMs)in first-degree relatives(FDRs)using familial screening,to describe the distribution of initial symptoms,lesio...Objective This study aims to investigate the prevalence of familial cerebral cavernous malformations(FCCMs)in first-degree relatives(FDRs)using familial screening,to describe the distribution of initial symptoms,lesion count on cranial MRI and pathogenic gene in patients.Methods Patients with multiple CCMs who enrolled from the Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in China database were considered as probands and FDRs were recruited.Cranial MRI was performed to screen the CCMs lesions,and whole-exome sequencing was performed to identify CCM mutations.MRI and genetic screening were combined to diagnose FCCM in FDRs,and the results were presented as prevalence and 95%CIs.The Kaplan-Meier(KM)method was used to calculate the cumulative incidence of FCCM.Results 33(76.74%)of the 43 families(110 FDRs)were identified as FCCM(85 FDRs).Receiver operating characteristic analysis revealed three lesions on T2-weighted imaging(T2WI)were the strong indicator for distinguishing probands with FCCM(sensitivity,87.10%;specificity,87.50%).Of the 85 FDRs,31 were diagnosed with FCCM,resulting in a prevalence of 36.5%(26.2%-46.7%).In families with FCCMs,the mutation rates for CCM1,CCM2 and CCM3 were 45.45%,21.21%and 9.09%,respectively.Furthermore,53.13%of patients were asymptomatic,17.19%were intracranial haemorrhage and 9.38%were epilepsy.The mean age of symptom onset analysed by KM was 46.67(40.56-52.78)years.Conclusion Based on MRI and genetic analysis,the prevalence of CCMs in the FDRs of families with FCCMs in China was 36.5%.Genetic counselling and MRI screening are recommended for FDRs in patients with more than three CCM lesions on T2WI.展开更多
Objective To investigate the clinical and genetic variation characteristics of a child with autosomal dominant lateral temporal lobe epilepsy caused by de novo variation of the MICALl gene.Methods Clinical data of the...Objective To investigate the clinical and genetic variation characteristics of a child with autosomal dominant lateral temporal lobe epilepsy caused by de novo variation of the MICALl gene.Methods Clinical data of the patient with autosomal dominant lateral temporal lobe epilepsy caused by MICALl gene variation diagnosed in Children's Hospital of Soochow University in August 2019 were collected.The whole exome sequencing was performed on the core members of the family,and the characteristics of gene variations were analyzed.Results The proband,a 10 years and 5 months old boy,was admitted to the hospital because of"intermittent convulsions for 7 years".The clinical manifestations included focal or generalized tonic-clonic seizures and hearing aura,with normal language and intellectual development.No abnormalities were found in the T,and fluid attenuated inversion recovery sequences of the cranial 3.0 T magnetic resonance imaging and 3D thinslice magnetic resonance imaging.Long-range video electroencephalogram showed the distribution of spinous and slow spinous waves in the left frontal and temporal areas.The results of whole exome gene sequencing in the core family members showed heterozygous de novo missense variation in the MICALI gene of the proband(NM_022765):c.763G>T(exon6)(p.Val255Leu)that had not been reported.According to American College of Medical Geneticsand Genomicssand Association for Molecular Pathology guidelines(2015),the mutation was considered potentially pathogenic.The application of antiepilepticdrugsswaseffectivein controllingepilepticcseizures.ConclusionAuditory symptoms are main clinical manifestations for the child with autosomal dominant lateral temporal lobe epilepsy.Antiepileptic drugs can effectively control epileptic seizures of the child,and the MICALl gene c.763G>T(p.Val255Leu)mutation is the genetic cause of the proband.展开更多
The fall armyworm(FAW),Spodoptera frugiperda(J.E.Smith)(Lepidoptera:Noctuidae),a notorious migratory pest native to tropical and subtropical America,invaded China in December 2018,then spread through 26 provinces(auto...The fall armyworm(FAW),Spodoptera frugiperda(J.E.Smith)(Lepidoptera:Noctuidae),a notorious migratory pest native to tropical and subtropical America,invaded China in December 2018,then spread through 26 provinces(autonomous regions,municipalities)in 2019 and 27 in 2020,damaging 1.125 and 1.278 million hectares of crops,respectively.Maize was the most severely affected crop,although wheat and other plants were also ruined.Considering the biological characteristics,incidence regularity and migration patterns of the FAW populations,Chinese government implemented a regional control strategy and divided the areas infested with FAW into the annual breeding grounds in Southwest and South China,the transitional migration area in Jiangnan and Jianghuai and the key preventive area in the Huang-Huai-Hai region and North China.The National Agro-Tech Extension and Service Center constructed"the National Information Platform for the Prevention and Control of the Fall Armyworm"at the county level,which would entail people reporting and mapping the spread of fall armyworm.According to forecasting information,millions of extension workers and small-scale growers in entire country were rallied by local governments to fight the pest through comprehensive control tactics including chemical,physical,biological and ecological measures.Thanks to the joint prevention and control,the final loss of crops infested was controlled within 5%of the total in 2019 and 2020.This review also gives a discussion on existing problems and future management scenarios.展开更多
Human respiratory syncytial virus(RSV) is a major pathogen of acute lower respiratory tract infection among young children. To investigate the prevalence and genetic characteristics of RSV in China, we performed a mol...Human respiratory syncytial virus(RSV) is a major pathogen of acute lower respiratory tract infection among young children. To investigate the prevalence and genetic characteristics of RSV in China, we performed a molecular epidemiological study during 2015–2019. A total of 964 RSV-positive specimens were identified from 5529 enrolled patients during a multi-center study. RSV subgroup A(RSV-A) was the predominant subgroup during this research period except in2016. Totally, 535 sequences of the second hypervariable region(HVR-2) of the G gene were obtained. Combined with182 Chinese sequences from GenBank, phylogenetic trees showed that 521 RSV-A sequences fell in genotypes ON1(512),NA1(6) and GA5(3), respectively;while 196 RSV-B sequences fell in BA9(193) and SAB4(3). ON1 and BA9 were the only genotypes after December 2015. Genotypes ON1 and BA9 can be separated into 10 and 7 lineages, respectively. The HVR-2 of genotype ON1 had six amino acid changes with a frequency more than 10%, while two substitutions H258 Q and H266 L were co-occurrences. The HVR-2 of genotype BA9 had nine amino acid substitutions with a frequency more than10%, while the sequences with T290 I and T312 I were all from 2018 to 2019. One N-glycosylation site at 237 was identified among ON1 sequences, while two N-glycosylation sites(296 and 310) were identified in the 60-nucleotide duplication region of BA9. To conclusion, ON1 and BA9 were the predominant genotypes in China during 2015–2019. For the genotypes ON1 and BA9, the G gene exhibited relatively high diversity and evolved continuously.展开更多
Objective:Lynch syndrome(LS)pre-screening methods remain under-investigated in colorectal cancers(CRCs)in Asia.Here,we aimed to systematically investigate LS pre-screening and comprehensively characterize LS CRCs.Meth...Objective:Lynch syndrome(LS)pre-screening methods remain under-investigated in colorectal cancers(CRCs)in Asia.Here,we aimed to systematically investigate LS pre-screening and comprehensively characterize LS CRCs.Methods:Microsatellite instability(MSI)and germline variants of DNA mismatch repair(MMR)genes were examined in 406 deficient MMR(dMMR)and 250 proficient MMR CRCs.The genetic differences between LS and sporadic CRCs were studied with whole exome sequencing analysis.Results:The incidence of dMMR in Chinese patients with CRCs was 13.8%.Consistency analysis between MMR immunohistochemistry(IHC)and MSI testing showed the kappa value was 0.758.With next-generation sequencing(NGS),germline variants were detected in 154 CRCs.Finally,88 patients with CRC were identified as having LS by Sanger sequencing.Among them,we discovered 21 previously unreported pathogenic germline variants of MMR genes.Chinese patients with LS,compared with sporadic CRCs,tended to be early-onset,right-sided,early-stage and mucinous.Overall,the performance of MMR IHC and MSI testing for LS pre-screening was comparable:the area under the ROC curve for dMMR,MSI-H,and MSI-H/L was 0.725,0.750,and 0.745,respectively.dMMR_MSI-H LS and sporadic CRCs showed substantial differences in somatic genetic characteristics,including different variant frequencies of APC,CREBBP,and KRAS,as well as different enriched pathways of VEGF,Notch,TGFβR,mTOR,ErbB,and Rac protein signal transduction.Conclusions:MMR IHC and MSI testing were effective methods for LS pre-screening.The revealed clinical and somatic genetic characteristics in LS CRCs may have the potential to improve the performance of LS pre-screening in combination with dMMR/MSI.展开更多
This paper expounded the current situation and genetic mechanisms of short-vine watermelon breeding from the aspects of material sources,breeding process and genetic characteristics of F_1,hoping to provide a theoreti...This paper expounded the current situation and genetic mechanisms of short-vine watermelon breeding from the aspects of material sources,breeding process and genetic characteristics of F_1,hoping to provide a theoretical basis for short-vine watermelon breeding,and breeding materials for watermelon planting innovation,as well as new opportunities for high-quality and high-yield watermelon.展开更多
Introduction:Measles is the third most common infectious disease,after Smallpox and Polio,and the global health community has committed to eliminating it.Recently,measles recurrence and outbreaks have occurred in seve...Introduction:Measles is the third most common infectious disease,after Smallpox and Polio,and the global health community has committed to eliminating it.Recently,measles recurrence and outbreaks have occurred in several countries,posing a significant challenge for China,which is on the brink of eliminating measles.This study aimed to analyze the genetic characteristics of the D8 genotype of the measles virus(MeV)in Gansu Province in 2024 and provide a scientific basis for measles control and elimination efforts.Methods:Nucleic acid-positive throat swab specimens were collected from measles cases confirmed in 14 municipal measles/rubella network laboratories in Gansu Province in 2024.MeV RNA was directly extracted using a viral nucleic acid extraction kit,and 634 nucleotides at the 3'-terminal of the nucleoprotein gene were amplified using one-step reverse transcription-polymerase chain reaction(RT-PCR).The amplified products were subjected to nucleotide sequencing to characterize the MeV gene.Results:A total of 120 sequences of a 450-nucleotide region within the nucleoprotein gene(N-450)of MeV were obtained from the Measles and Rubella Network Laboratory of Gansu Province in 2024,of which 117 sequences were of the D8 genotype and 3 sequences were of the A genotype.The similarities in nucleotide and amino acid sequences between the D8 genotype sequences were 96.4%–99.1%and 96.7%–98.0%,respectively.The Gansu D8 sequences belonged to the same major branch as the D8 reference strain identified by the World Health Organization(WHO),which further divided into Cluster 1 and Cluster 2.By aligning oligonucleotide sequences using the real-time RT-PCR kit distributed by the Global Measles and Rubella Laboratory Network(GMRLN)with sequences of the D8 genotype from Gansu Province,this study discovered that every sequence in Cluster 1 occurred at the reverse primer annealing site,each containing three T-to-C transitions.Conclusions:The cases detected in Gansu in 2024 were likely imported or linked to importation.It is recommended to continue vaccination programs with measles-containing vaccines in key areas and to carry out highly sensitive etiological monitoring and detection to provide data support for subsequent measles elimination efforts.展开更多
Background Hirschsprung's disease(HSCR)is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth,causing great physical and ...Background Hirschsprung's disease(HSCR)is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth,causing great physical and mental pain to patients and their families.Studies have shown that more than 20 genes are involved in HSCR,and most cases of HSCR are sporadic.However,the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%.Furthermore,familial HSCR patients show incomplete dominance.We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families.Methods To find published references,we used the title/abstract terms"Hirschsprung"and"familial"in the PubMed data-base and the MeSH terms"Hirschsprung"and"familial"in Web of Science.Finally,we summarized 129 HSCR families over the last 40 years.Results The male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR.The primary gene factors in the syndromic families are ret proto-oncogene(RET)and endothelin B receptor gene(EDNRB).Most families show incomplete dominance and are relevant to RET,and the RET mutation has 56%pen-etrance in familial HSCR.When one of the parents is a RET mutation carrier in an HSCR family,the offspring's recurrence risk is 28%,and the incidence of the offspring does not depend on whether the parent suffers from HSCR.Conclusion Our findings will help HSCR patients obtain better genetic counseling,calculate the risk of recurrence,and provide new insights for future pedigree studies.展开更多
基金Supported by Special Fund for Agro-scientific Research in the Public Interest of China(201303008)Special Funds for Modern Agricultural Science and Technology Innovation,Promotion and Information Construction in Guangdong Province(YCN[2014]492)+1 种基金Science and Technology Plan Project of Guangdong Province(2012B020301006)Key Breeding Project for Special Maize of Department of Agriculture of Guangdong Province(B3071328)~~
文摘The leaf angle in waxy corn is a significant trait for breeding corn with compact plant type, which is beneficial to improve yield. According to the Griffing method II, the GCA （general combining ability） and SCA （specific combining ability） of leaf angle trait in the 7 waxy corn inbred lines and 21 combinations were esti-mated, and the genetic characteristics of leaf angle in corn were also analyzed. The results showed that among the 7 inbred lines, the GCA values ranked as N22 〉N8 〉 N28 〉 N7 〉 N23 〉 N27 〉 N4. The GCA of N27 showed great negative ef-fect, and the genetic variance of its SCA was lower. It suggested that the N27 can be used as an ideal parent for breeding excel ent combinations with smal leaf angle and compact plant type. The inheritance of leaf angle trait in waxy corn is in ac-cordance with the model of ＂additive - dominant - epistatic＂. The efficiency of leaf angle trait is control ed by recessive genes. The broad heritability of leaf angle trait in waxy corn is relative low （68.5%）, but its narrow heritability is relatively high （72.62%）. In the breeding practices, the early-generation selection is more suitable for the leaf angel trait.
文摘A total of 10 Tricholoma matsutake strains isolated from Yajiang County, Sichuan Province of China were analyzed by using AFLP technique. The results showed that the genetic characteristics of Tricholoma matsutake strains can be properly revealed by AFLP, and among the 10 Tricholoma matsutake strains, the genetic aspects were very similar. At the level of 90% similarity, all the strains collected together, and at the similarity of 92 % , three AFLP groups formed. Simultaneously, the effects of quantity of the primers on the second AFLP PCR were determined. The optimal quantity of Eco +1/Mse+1, Eco + 2/Mse + 2 and Eco + 3/ Mse+3 primer pairs used in the AFLP was 1 pmol/5 pmol, 0. 6 pmol/10 pmol and 0.1 pmol/8 pmol, respectively.
基金supported by Scientific and Technological Innovation Project of China Academy of Chinese Medical Sciences(No.CI2023E001TS03)the Fundamental Research Funds for the Central Public Welfare Research Institutes(No.ZXKT22001)。
文摘Objective:The investigation of the correlation between ecological factors and the genetic characteristics or metabolites of plants offers valuable insights into the regional causes of genetic and metabolic diversity.Here,Gastrodia elata,a medicinal plant,is employed as a model to explore the environmental factors that influence its genetic characteristics and metabolic accumulations.Methods:A total of 23 G.elata populations from six cultispecies and 11 cultivated regions were selected based on the predictions of the global geographic information system.The genetic characteristics of these populations were evaluated using highly polymorphic simple sequence repeat markers.Additionally,the metabolic accumulations and antioxidant capacity of mature tubers were measured employing colorimetry and high performance liquid chromatography(HPLC).Ecological data of each region were obtained from the World Clim-global climate database and harmonized world soil database.To assess the influence of ecological factors on the genetic characteristics and metabolic profiles of G.elata,Pearson's correlation analysis was conducted.Results:Genetic variation among G.elata populations exceeded that within populations.Genetic diverisity,distance and structure manifested regional and species-specific patterns.Metabolic profiling and antioxidant capacity exhibited regional variations.Notably,the Lueyang region demonstrated that a content range of total polysaccharide,total protein,and phenolic glycosides was 9.34%-189.67%higher than the average.Similarly,in the Hubei region,total phenolic content,p-hydroxybenzyl alcohol content,and antioxidant indicators were observed to be higher than the average levels,by 106.57%,136.47%and12.50%-91.14%,respectively.Furthermore,ecological factors had a significant comprehensive impact on G.elata genetic characteristics(r>0.256 and P<0.05).Multivariate metabolite accumulations in G.elata were influenced by dominant ecological factors.Temperature notably impacted the accumulation of total protein(|r|>0.528 and P<0.05).Moisture,encompassing precipitation and soil content,significantly affected the production of phenolic glycosides(|r|>0.503 and P<0.05).Conclusion:The genetic characteristics of G.elata manifested regional and species-specific patterns,with the metabolic accumulations and antioxidant capacity of mature tubers exhibited regional variations.Specifically,multivariate ecological factors comprehensively influenced genetic characteristics.Temperature and moisture played pivotal roles in regulating the accumulations of proteins and phenolic glycosides,respectively.These findings underscore the significant impact of ecological factors on the shaping of G.elata,highlighting their crucial role in enhancing the quality of Chinese medicinal materials.
文摘Objective To investigate the clinical and genetic characteristics of spinal muscular atrophy(SMA)patients with SMNI gene compound heterozygous mutations.Methods Three SMA-II pedigrees treated in Henan Provincial People's Hospital from October 2019 to July 2020 were selected.The clinical data of 3 SMA-II probands were retrospectively analyzed.Multiplex ligationdependent probe amplification(MLPA)technology was used to detect the copy number of the SMN gene in the probands and their parents.Polymerase chain reaction amplification combined with microfluidic capillary electrophoresis were used to detect point mutations in the SMNI gene of the probands.Sanger sequencing was used to validate candidate variant sites.Results The 3 probands are all male,aged 19,17 and 12 years,respectively.The main clinical manifestations were symmetrical muscle weakness mainly in the proximal lower limbs,mild to moderate elevation of serum creatine kinase,and neurogenic injury as determined by electromyography or muscle pathology.The genetic testing results showed that all 3 probands had heterozygous deletion in exon 7 of the SMNI gene,and carried heterozygous variations c.275G>A(p.Trp92),c.689C>T(p.Ser230Leu),and c.708dupT(p.Pro237Serfs 19),respectively.The exon deletion and point mutation were inherited separately from their parents.c.275G>A(p.Trp92)and c.708dupT(p.Pro237Serfs 19)variations had not been reported before.Conclusion The clinical manifestations of SMAII patients are symmetrical muscle weakness,mainly in the proximal extremities of both lower limbs,and electromyography or muscle biopsy suggesting neurogenic lesions.The compound heterozygous variation of point mutation and heterozygous deletion in the SMNI gene can lead to SMA-II.Suspected SMA patients with SMNI gene heterozygous deletion should take point mutation testing.
基金supported by the Key Technologies Research and Development Program of the National Ministry of Science(Grant numbers 2018ZX10713001 and 2018ZX10713002).
文摘Human bocavirus(HBoV)is a common respiratory virus among patients with acute respiratory infection(ARI).To investigate the prevalence and genetic characteristics of HBoV,clinical specimens from 13,109 ARI patients were collected through active surveillance from 12 provinces of China during 2012-2021.Extracted nucleic acid was screened and the viral protein 1(VP1)gene was directly amplified and sequenced in HBoV-positive specimens.3.51%of patients were HBoV-positive,with children under 5 years old accounting for 93.48%of cases.HBoV detection rate increased from 2.35%in 2012-2019 to 5.38%in 2020 and 7.68%in 2021,with a pronounced increase in children aged 2-4 years and in Southern China.The age group with the highest detection rate shifted from infants under 2 years in 2012-2019 to children aged 2-4 years in 2020-2021.The proportion of HBoV co-detections increased significantly in 2020-2021,from 43.98%to over 60.00%.All HBoV cases were identified as HBoV-1 with 165 full length sequences of VP1 gene obtained.No temporal or geographic clustering was observed.The VP1 gene evolved at a rate of 7.99×10^(−5)substitutions/site per year,withω-value less than 1,indicating that the VP1 protein was under negative selection pressure.Multiple antigen-associated amino acid mutations and positive selection sites were found in the VP1 protein.In conclusion,HBoV1 remains a major cause of pediatric ARI in China,but its epidemic pattern exhibited dynamic shifts during the coronavirus disease 2019 pandemic,while the viral genetic evolution remained relatively stable.
基金the Science and Technology Planning Project of Guangdong Province of China(Grant 2021 B1212030009)Sanming Project of Medicine in Shenzhen(No.SZSM202011008)+1 种基金Research Foundation of Shenzhen Science and Technology Emergency Key Technology Program(JSGG20220301090007009)Shenzhen Key Medical Discipline Construction Fund(SZXK064).
文摘This paper comprehensively analyses the first-ever monkeypox outbreak in Shenzhen,China,encompassing clinical symptomatology,therapeutic approaches,epidemiological research,and comprehensive laboratory tests,aiming to establish a robust reference for future monkeypox mitigation and management strategies.The investigation involved a thorough investigation of all identified positive cases,including extensive molecular analysis by nucleic acid detection and whole-genome sequencing of the monkeypox virus.Contact tracing and containment of the infected individuals were also undertaken.Three distinct monkeypox cases were identified in this unique outbreak,exhibiting mild and atypical clinical manifestations,primarily fever and rash.All cases were associated with a single transmission chain,primarily facilitated through close contact and homosexual behavior,indicative of a high-risk factor for monkeypox transmission.
基金supported by Project of Ningxia Hui Autonomous Region Key R&D Program(Grant No.NXNYYZ202101)the National Natural Science Foundation of China(Grant No.32360804)+1 种基金Ningxia Science and Technology Department major scientific and technological achievements transformation project(Grant No.2022CJE9007)Ningxia Natural Science Foundation(Grant No.2023AAC03064).
文摘Challenges arise in global viticulture due to low temperatures.To ensure the sustainable and high-quality development of the wine industry,it is essential to breed wine grape varieties that are not only of high quality but also possess cold hardiness.Intraspecific recurrent selection in Vitis vinifera can enhance cold hardiness while maintaining fruit quality.In this study,we used‘Ecolly’as an intermediary grape variety for crossing with‘Cabernet Sauvignon’,‘Marselan’,and‘Dunkelfelder’,including three reciprocal crosses and a total of 1,657 intraspecific hybrids.We characterized the cold hardiness of these intraspecific hybrids and analyzed the genetic aspects of cold hardiness,ultimately identifying excellent strains with cold hardiness.Parameters like mean high-temperature exotherm(mHTE),mean low-temperature exotherm(mLTE),bound/free water ratio,water loss ratio in vitro,frost damage grades,and overall performance displayed partially normal distributions.In intraspecific hybrids,there was a maternal advantage in traits related to bound/free water ratio and water loss ratio.Some hybrid populations exhibited values for mHTE,mLTE,and water loss ratio that were lower than the low parent's values,while bound/free water ratio showed values higher than the high parent's values.Among the 1,657 intraspecific hybrids,52 strains could bud under stress at-18℃,and seven of these strains excelled in three important cold hardiness measures.Our study revealed that cold hardiness in V.vinifera is influenced by multiple genes and is a quantitative trait.Intraspecific hybridization can produce a small number of superior strains with enhanced cold hardiness.
基金supported by National Key Research and Development Program of China(2023YFC2306001)National Natural Science Foundation of China(No.32470141)+1 种基金the Beijing Research Center for Respiratory Infectious Diseases Project(BJRID2025-008)CAMS Innovation Fund for Medical Sciences(CIFMS,NO.2019-I2M-5–026,2022-I2M-CoV19-006).
文摘Human adenovirus type 108(HAdV-108)has been detected in multiple countries,including China,and is associated with severe acute respiratory infection(ARI)in children,with reported fatalities.However,studies on HAdV-108 remain limited.This study aimed to investigate the clinical and genetic characteristics of HAdV-108 in ARI children in China.From 2014 to 2024,6720 respiratory samples were collected from hospitalized children with ARI at ten hospitals across northern and southern China,of which 505(7.51%)tested positive for HAdV.The whole-genome and three major capsid protein genes were amplified and sequenced for bioinformatics analysis,which revealed that among 317 HAdV-isolated samples,21(6.62%)were identified as HAdV-108,ranking third after HAdV-114 and HAdV-7.Clinical analysis of HAdV-108-positive cases showed that the main manifestations were cough and fever.Seven children had gastrointestinal symptoms,and two children without underlying diseases were diagnosed with severe pneumonia.Phylogenetic analysis of wholegenome sequences revealed distinct predominant epidemic branches between domestic and international strains,with one strain obtained in this study forming an independent branch.Hexon protein exhibited the fastest evolution rate,lowest identity,and greatest amino acid variability,while fiber protein displayed the slowest evolution rate,highest identity,and greatest conservation and stability.Compared with the earliest reported HAdV-108 strain,three amino acid deletions were identified in the RGD loop region of penton base protein,resulting in potential structural change.Recombination analysis identified five distinct recombination patterns.In vitro experiments demonstrated that HAdV-108 had proliferation capacity comparable to other species C adenoviruses.In summary,HAdV-108 has persistently circulated in China,causing severe ARIs and concurrent gastrointestinal manifestations.Cluster3 was the predominant epidemic branch in China.HAdV-108 exhibited significant intratype genetic variation,with random and diverse recombination events.
基金Supported by the Open Funds of Jiangsu Key Laboratory of Marine Biotechnology, Huaihai Institute of Technology (No. 2007HS015)the Shandong Post-Doctoral Science Foundation (No. 200802039)the China Postdoctoral Science Foundation (No. 20060390999)
文摘The genetic diversity of wild and hatchery populations of half-smooth tongue sole Cynoglossus semilaevis, based on observation of amplified fragment length polymorphism (AFLP) was described. Two hundred individuals from four wild populations, Laizhou (LZ), Weihai (WH), Qingdao (QD), Rizhao (RZ), and one hatchery population, Mingbo (MB), were screened using eight different AFLP primer combinations. A total of 384 loci were screened in the five studied populations. 48.4%, 51.3%, 50.7%, 49.3% and 45.8% of these loci were polymorphic among the individuals tested in the LZ, WH, QD, RZ and MB populations, respectively. The number of polymorphic loci detected by single primer combinations ranged from 17 to 35. The average heterozygosity of the LZ, WH, QD, RZ and MB populations was 0.072, 0.093, 0.092, 0.090 and 0.063, respectively. The WH population showed the highest genetic diversity in terms of total number of AFLP bands, total number of polymorphic bands, average heterozygosity and percentage of low frequency (0-0.2) polymorphic loci among all the populations, while the LZ population was the lowest among the wild populations. Compared with the wild populations, the hatchery population showed a low genetic viability.
基金Supported by the Sinopec Science and Technology Project(P21040-1).
文摘In the second member of the Upper Triassic Xujiahe Formation(T_(3)x_(2))in the Xinchang area,western Sichuan Basin,only a low percent of reserves has been recovered,and the geological model of gas reservoir sweet spot remains unclear.Based on a large number of core,field outcrop,test and logging-seismic data,the T_(3)x_(2) gas reservoir in the Xinchang area is examined.The concept of fault-fold-fracture body(FFFB)is proposed,and its types are recognized.The main factors controlling fracture development are identified,and the geological models of FFFB are established.FFFB refers to faults,folds and associated fractures reservoirs.According to the characteristics and genesis,FFFBs can be divided into three types:fault-fracture body,fold-fracture body,and fault-fold body.In the hanging wall of the fault,the closer to the fault,the more developed the effective fractures;the greater the fold amplitude and the closer to the fold hinge plane,the more developed the effective fractures.Two types of geological models of FFFB are established:fault-fold fracture,and matrix storage and permeability.The former can be divided into two subtypes:network fracture,and single structural fracture,and the later can be divided into three subtypes:bedding fracture,low permeability pore,and extremely low permeability pore.The process for evaluating favorable FFFB zones was formed to define favorable development targets and support the well deployment for purpose of high production.The study results provide a reference for the exploration and development of deep tight sandstone oil and gas reservoirs in China.
文摘Uveal and conjunctival melanomas are relatively rare tumors;nonetheless,they pose a significant risk of mortality for a large number of affected individuals.The pathogenesis of melanoma at different sites is very similar,however,the prognosis for patients with ocular melanoma remains unfavourable,primarily due to its distinctive genetic profile and tumor microenvironment.Regardless of considerable advances in understanding the genetic characteristics and biological behaviour,the treatment of uveal and conjunctival melanoma remains a formidable challenge.To enhance the prospect of success,collaborative efforts involving medical professionals and researchers in thefields of ocular biology and oncology are essential.Current data show a lack of well-designed randomized clinical trials and limited benefits in current forms of treatment for these tumors.Despite advancements in the development of effective melanoma therapeutic strategies,all current treatments for uveal melanoma(UM)and conjunctival melanoma(CoM)remain unsatisfactory,resulting in a poor long-term prognosis.Ongoing trials offer hope for positive outcomes in advanced and metastatic tumors.A more comprehensive understanding of the genetic and molecular abnormalities involved in the development and progression of ocular melanomas opens the way for the development of personalized therapy,with various potential therapeutic targets currently under consideration.Increased comprehension of the molecular pathogenesis of UM and CoM and their specificities may aid in the development of new and more effective systemic therapeutic agents,with the hope of improving the prognosis for patients with metastatic disease.
基金The National Natural Science Foundation of China under contract No.41776171the National Programme on Global Change and Air-Sea Interaction under contract Nos GASI-02-SCS-YSWspr/aut and GASI-02-PAC-YDsum/aut+1 种基金the Scientific Research Foundation of TIO,SOA under contract No.2016010the Bilateral Cooperation of Maritime Affairs under contract No.2200207
文摘The morphological similarities of Pampus fishes have led to considerable confusion in species-level identification,and no accurate information on neotype or DNA barcoding of Pampus echinogaster is available. Two hundred and seven specimens of P. echinogaster were collected from the coastal waters of Dandong, Dongying, Qingdao,Nantong, Zhoushan, Wenzhou, Changle, Taiwan, and Wakayama（Japan）, from June 2010 to April 2013. The diagnostic characteristics of P. echinogaster are as follows： dorsal fin VIII-XI-43–51, anal fin V-VIII-43–49, pectoral fin 22–27, caudal fin 19–22, pelvic fin absent; first gill rakers sparse, slender（pointed）, 3–4＋12–16=15–20; vertebrae39–41; transverse occipital canal on top of head moderately small, wavy ridges not reaching upper origin of pectoral fin; ventral branch of lateral line canal spare, shorter than dorsal branch of lateral line canal. By combining congener sequences of the cytochrome oxidase I（COI） gene from Gen Bank, two absolute groups were detected among all specimens, which further indicated that two valid species were present based on genetic differences in amino acid sequences and the distance between the groups. The sequences of Group 1 can be regarded as DNA barcoding of P. echinogaster. The correct morphological redescription and DNA barcoding of P.echinogaster are presented here to provide a guarantee for efficient and accurate studies, a theoretical basis for classification, and enable appropriate fishery management and conservation strategies for the genus Pampus in the future.
基金supported by grants from Technology Platform Construction Project of Fujian Province(2020Y2003,2021Y2001)supported the Fujian Province High level Neuromedical Center Construction Fund(principal investigator:DK),a grant from the Government of Fujian Province(grant number:HLNCC-FJFY 003)supported by grants from National Natural Science Foundation of China(8227051360).
文摘Objective This study aims to investigate the prevalence of familial cerebral cavernous malformations(FCCMs)in first-degree relatives(FDRs)using familial screening,to describe the distribution of initial symptoms,lesion count on cranial MRI and pathogenic gene in patients.Methods Patients with multiple CCMs who enrolled from the Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in China database were considered as probands and FDRs were recruited.Cranial MRI was performed to screen the CCMs lesions,and whole-exome sequencing was performed to identify CCM mutations.MRI and genetic screening were combined to diagnose FCCM in FDRs,and the results were presented as prevalence and 95%CIs.The Kaplan-Meier(KM)method was used to calculate the cumulative incidence of FCCM.Results 33(76.74%)of the 43 families(110 FDRs)were identified as FCCM(85 FDRs).Receiver operating characteristic analysis revealed three lesions on T2-weighted imaging(T2WI)were the strong indicator for distinguishing probands with FCCM(sensitivity,87.10%;specificity,87.50%).Of the 85 FDRs,31 were diagnosed with FCCM,resulting in a prevalence of 36.5%(26.2%-46.7%).In families with FCCMs,the mutation rates for CCM1,CCM2 and CCM3 were 45.45%,21.21%and 9.09%,respectively.Furthermore,53.13%of patients were asymptomatic,17.19%were intracranial haemorrhage and 9.38%were epilepsy.The mean age of symptom onset analysed by KM was 46.67(40.56-52.78)years.Conclusion Based on MRI and genetic analysis,the prevalence of CCMs in the FDRs of families with FCCMs in China was 36.5%.Genetic counselling and MRI screening are recommended for FDRs in patients with more than three CCM lesions on T2WI.
文摘Objective To investigate the clinical and genetic variation characteristics of a child with autosomal dominant lateral temporal lobe epilepsy caused by de novo variation of the MICALl gene.Methods Clinical data of the patient with autosomal dominant lateral temporal lobe epilepsy caused by MICALl gene variation diagnosed in Children's Hospital of Soochow University in August 2019 were collected.The whole exome sequencing was performed on the core members of the family,and the characteristics of gene variations were analyzed.Results The proband,a 10 years and 5 months old boy,was admitted to the hospital because of"intermittent convulsions for 7 years".The clinical manifestations included focal or generalized tonic-clonic seizures and hearing aura,with normal language and intellectual development.No abnormalities were found in the T,and fluid attenuated inversion recovery sequences of the cranial 3.0 T magnetic resonance imaging and 3D thinslice magnetic resonance imaging.Long-range video electroencephalogram showed the distribution of spinous and slow spinous waves in the left frontal and temporal areas.The results of whole exome gene sequencing in the core family members showed heterozygous de novo missense variation in the MICALI gene of the proband(NM_022765):c.763G>T(exon6)(p.Val255Leu)that had not been reported.According to American College of Medical Geneticsand Genomicssand Association for Molecular Pathology guidelines(2015),the mutation was considered potentially pathogenic.The application of antiepilepticdrugsswaseffectivein controllingepilepticcseizures.ConclusionAuditory symptoms are main clinical manifestations for the child with autosomal dominant lateral temporal lobe epilepsy.Antiepileptic drugs can effectively control epileptic seizures of the child,and the MICALl gene c.763G>T(p.Val255Leu)mutation is the genetic cause of the proband.
基金supported by the National Key R&D Program of China(2019YFD0300102)the Central Public-interest Scientific Institution Basal Research Fund,China(CAASZDRW202007)the earmarked fund for China Agriculture Research System(CARS-15-19)。
文摘The fall armyworm(FAW),Spodoptera frugiperda(J.E.Smith)(Lepidoptera:Noctuidae),a notorious migratory pest native to tropical and subtropical America,invaded China in December 2018,then spread through 26 provinces(autonomous regions,municipalities)in 2019 and 27 in 2020,damaging 1.125 and 1.278 million hectares of crops,respectively.Maize was the most severely affected crop,although wheat and other plants were also ruined.Considering the biological characteristics,incidence regularity and migration patterns of the FAW populations,Chinese government implemented a regional control strategy and divided the areas infested with FAW into the annual breeding grounds in Southwest and South China,the transitional migration area in Jiangnan and Jianghuai and the key preventive area in the Huang-Huai-Hai region and North China.The National Agro-Tech Extension and Service Center constructed"the National Information Platform for the Prevention and Control of the Fall Armyworm"at the county level,which would entail people reporting and mapping the spread of fall armyworm.According to forecasting information,millions of extension workers and small-scale growers in entire country were rallied by local governments to fight the pest through comprehensive control tactics including chemical,physical,biological and ecological measures.Thanks to the joint prevention and control,the final loss of crops infested was controlled within 5%of the total in 2019 and 2020.This review also gives a discussion on existing problems and future management scenarios.
基金This work was supported by the National Science and Technology Major Projects(Grant Number 2017ZX10104001-005-010,2017ZX10103004-004)the CAMS Innovation Fund for Medical Sciences(CIFMS)(Grant Number 2019-I2M-5-026)。
文摘Human respiratory syncytial virus(RSV) is a major pathogen of acute lower respiratory tract infection among young children. To investigate the prevalence and genetic characteristics of RSV in China, we performed a molecular epidemiological study during 2015–2019. A total of 964 RSV-positive specimens were identified from 5529 enrolled patients during a multi-center study. RSV subgroup A(RSV-A) was the predominant subgroup during this research period except in2016. Totally, 535 sequences of the second hypervariable region(HVR-2) of the G gene were obtained. Combined with182 Chinese sequences from GenBank, phylogenetic trees showed that 521 RSV-A sequences fell in genotypes ON1(512),NA1(6) and GA5(3), respectively;while 196 RSV-B sequences fell in BA9(193) and SAB4(3). ON1 and BA9 were the only genotypes after December 2015. Genotypes ON1 and BA9 can be separated into 10 and 7 lineages, respectively. The HVR-2 of genotype ON1 had six amino acid changes with a frequency more than 10%, while two substitutions H258 Q and H266 L were co-occurrences. The HVR-2 of genotype BA9 had nine amino acid substitutions with a frequency more than10%, while the sequences with T290 I and T312 I were all from 2018 to 2019. One N-glycosylation site at 237 was identified among ON1 sequences, while two N-glycosylation sites(296 and 310) were identified in the 60-nucleotide duplication region of BA9. To conclusion, ON1 and BA9 were the predominant genotypes in China during 2015–2019. For the genotypes ON1 and BA9, the G gene exhibited relatively high diversity and evolved continuously.
基金supported by the National Natural Science Foundation of China(Grant No.81572269).
文摘Objective:Lynch syndrome(LS)pre-screening methods remain under-investigated in colorectal cancers(CRCs)in Asia.Here,we aimed to systematically investigate LS pre-screening and comprehensively characterize LS CRCs.Methods:Microsatellite instability(MSI)and germline variants of DNA mismatch repair(MMR)genes were examined in 406 deficient MMR(dMMR)and 250 proficient MMR CRCs.The genetic differences between LS and sporadic CRCs were studied with whole exome sequencing analysis.Results:The incidence of dMMR in Chinese patients with CRCs was 13.8%.Consistency analysis between MMR immunohistochemistry(IHC)and MSI testing showed the kappa value was 0.758.With next-generation sequencing(NGS),germline variants were detected in 154 CRCs.Finally,88 patients with CRC were identified as having LS by Sanger sequencing.Among them,we discovered 21 previously unreported pathogenic germline variants of MMR genes.Chinese patients with LS,compared with sporadic CRCs,tended to be early-onset,right-sided,early-stage and mucinous.Overall,the performance of MMR IHC and MSI testing for LS pre-screening was comparable:the area under the ROC curve for dMMR,MSI-H,and MSI-H/L was 0.725,0.750,and 0.745,respectively.dMMR_MSI-H LS and sporadic CRCs showed substantial differences in somatic genetic characteristics,including different variant frequencies of APC,CREBBP,and KRAS,as well as different enriched pathways of VEGF,Notch,TGFβR,mTOR,ErbB,and Rac protein signal transduction.Conclusions:MMR IHC and MSI testing were effective methods for LS pre-screening.The revealed clinical and somatic genetic characteristics in LS CRCs may have the potential to improve the performance of LS pre-screening in combination with dMMR/MSI.
文摘This paper expounded the current situation and genetic mechanisms of short-vine watermelon breeding from the aspects of material sources,breeding process and genetic characteristics of F_1,hoping to provide a theoretical basis for short-vine watermelon breeding,and breeding materials for watermelon planting innovation,as well as new opportunities for high-quality and high-yield watermelon.
文摘Introduction:Measles is the third most common infectious disease,after Smallpox and Polio,and the global health community has committed to eliminating it.Recently,measles recurrence and outbreaks have occurred in several countries,posing a significant challenge for China,which is on the brink of eliminating measles.This study aimed to analyze the genetic characteristics of the D8 genotype of the measles virus(MeV)in Gansu Province in 2024 and provide a scientific basis for measles control and elimination efforts.Methods:Nucleic acid-positive throat swab specimens were collected from measles cases confirmed in 14 municipal measles/rubella network laboratories in Gansu Province in 2024.MeV RNA was directly extracted using a viral nucleic acid extraction kit,and 634 nucleotides at the 3'-terminal of the nucleoprotein gene were amplified using one-step reverse transcription-polymerase chain reaction(RT-PCR).The amplified products were subjected to nucleotide sequencing to characterize the MeV gene.Results:A total of 120 sequences of a 450-nucleotide region within the nucleoprotein gene(N-450)of MeV were obtained from the Measles and Rubella Network Laboratory of Gansu Province in 2024,of which 117 sequences were of the D8 genotype and 3 sequences were of the A genotype.The similarities in nucleotide and amino acid sequences between the D8 genotype sequences were 96.4%–99.1%and 96.7%–98.0%,respectively.The Gansu D8 sequences belonged to the same major branch as the D8 reference strain identified by the World Health Organization(WHO),which further divided into Cluster 1 and Cluster 2.By aligning oligonucleotide sequences using the real-time RT-PCR kit distributed by the Global Measles and Rubella Laboratory Network(GMRLN)with sequences of the D8 genotype from Gansu Province,this study discovered that every sequence in Cluster 1 occurred at the reverse primer annealing site,each containing three T-to-C transitions.Conclusions:The cases detected in Gansu in 2024 were likely imported or linked to importation.It is recommended to continue vaccination programs with measles-containing vaccines in key areas and to carry out highly sensitive etiological monitoring and detection to provide data support for subsequent measles elimination efforts.
基金National Natural Science Foundation of China(82071685 to FJX)Clinical Research Pilot Project of Tongji Hospital(2019YBKY026 to FJX)+2 种基金Provincial Key Research and Development Program(2020BCB008 to FJX)Science and Technology Innovation Base Platform(2020DCD006 to FJX)Project of Shenzhen San Ming(SZSM201812055 to FJX).
文摘Background Hirschsprung's disease(HSCR)is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth,causing great physical and mental pain to patients and their families.Studies have shown that more than 20 genes are involved in HSCR,and most cases of HSCR are sporadic.However,the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%.Furthermore,familial HSCR patients show incomplete dominance.We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families.Methods To find published references,we used the title/abstract terms"Hirschsprung"and"familial"in the PubMed data-base and the MeSH terms"Hirschsprung"and"familial"in Web of Science.Finally,we summarized 129 HSCR families over the last 40 years.Results The male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR.The primary gene factors in the syndromic families are ret proto-oncogene(RET)and endothelin B receptor gene(EDNRB).Most families show incomplete dominance and are relevant to RET,and the RET mutation has 56%pen-etrance in familial HSCR.When one of the parents is a RET mutation carrier in an HSCR family,the offspring's recurrence risk is 28%,and the incidence of the offspring does not depend on whether the parent suffers from HSCR.Conclusion Our findings will help HSCR patients obtain better genetic counseling,calculate the risk of recurrence,and provide new insights for future pedigree studies.
