BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic qu...Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.展开更多
In this study, a hybrid machine learning (HML)-based approach, incorporating Genetic data analysis (GDA), is proposed to accurately identify the presence of adenomatous colorectal polyps (ACRP) which is a crucial earl...In this study, a hybrid machine learning (HML)-based approach, incorporating Genetic data analysis (GDA), is proposed to accurately identify the presence of adenomatous colorectal polyps (ACRP) which is a crucial early detector of colorectal cancer (CRC). The present study develops a classification ensemble model based on tuned hyperparameters. Surpassing accuracy percentages of early detection approaches used in previous studies, the current method exhibits exceptional performance in identifying ACRP and diagnosing CRC, overcoming limitations of CRC traditional methods that are based on error-prone manual examination. Particularly, the method demonstrates the following CRP identification accuracy data: 97.7 ± 1.1, precision: 94.3 ± 5, recall: 96.0 ± 3, F1-score: 95.7 ± 4, specificity: 97.3 ± 1.2, average AUC: 0.97.3 ± 0.02, and average p-value: 0.0425 ± 0.07. The findings underscore the potential of this method for early detection of ACRP as well as clinical use in the development of CRC treatment planning strategies. The advantages of this approach are highly expected to contribute to the prevention and reduction of CRC mortality.展开更多
Twenty-third collections of Salvia spp.in Beijing were analyzed phylogenetically by AFLP technique.6 primer pairs with good repetition and highly polymorphic bands from 21 pairs were selected to amplify the genomic DN...Twenty-third collections of Salvia spp.in Beijing were analyzed phylogenetically by AFLP technique.6 primer pairs with good repetition and highly polymorphic bands from 21 pairs were selected to amplify the genomic DNA.All of 367 AFLP bands were obtained,in which 359(97.82%)were polymorphic markers.At a genetic distance of 0.32,the collections could be clustered into 7 species i.e.S.splendens,S.farinacea,S.coccinea,S.plebeia,S.miltiorrhiza,S.umbratica and S.officinalis.The respective genetic relationship be...展开更多
[ Objective ] The study aimed to reveal the genetic model of a biomass mutant in Oryza sativa. [ Method ] In the process of screening and identification of Bar-transgenic rice, a biomass mutant was found in 10 lines o...[ Objective ] The study aimed to reveal the genetic model of a biomass mutant in Oryza sativa. [ Method ] In the process of screening and identification of Bar-transgenic rice, a biomass mutant was found in 10 lines of T1 progenies. The mutant was investigated for genetic analysis and agronomic traits by herbicide spraying and PCR amplification. [ Result] The segregation ratio is consistent with mendelian law（3：1）. The mutant assumed not only higher plant height, wider straw and earlier florescence, but also more tillers, bigger spikes and resultantly higher biomass. PCR detections indicated that no co-segregation was observed between mutant traits and target gene（Bar） in the T-DNA inserted, proving that the mutant is not caused by the insertion of T-DNA containing target gene （Bar）. [ Conclusion] Our study may avail to understand the cloning of mutant gene and the mechanism of the mutant gene on biomass.展开更多
A mutant with abnormal hull was first discovered from a twin-seedling strain W2555 in rice （Oryza sativa L.）. The mutant had sparse branches and decreased number of florets from the base to the peak. Frequently, the...A mutant with abnormal hull was first discovered from a twin-seedling strain W2555 in rice （Oryza sativa L.）. The mutant had sparse branches and decreased number of florets from the base to the peak. Frequently, the florets at the top of the panicle did not develop completely. The underdeveloped florets often showed slender and white in their life cycle. Genetic analysis indicated that the mutant traits were controlled by a single recessive gene （temporarily designated as ah）. ah gene controlled the development of inflorescence meristem and the flower organ. The florets of mutant showed degenerated lemma and palea. Stamens and lodicules were homeoticly transformed into pistils and palea/lemma-like structures, respectively. It seemed that ah mutant phenotypes of the homeotic conversions in lodicules and stamens were very similar to that of the B loss-of-function spwl gene reported previously in rice.展开更多
[Objective] Infectious bursal disease （IBD） is a highly contagious immuno- suppressive disease caused by infectious bursal disease virus （IBDV）. IBDV is ge- netically prone to mutation, which results in challenges...[Objective] Infectious bursal disease （IBD） is a highly contagious immuno- suppressive disease caused by infectious bursal disease virus （IBDV）. IBDV is ge- netically prone to mutation, which results in challenges to the disease prevention and control. Thus, it is necessary to continuously monitor the prevalence of IBDV. [Method] 36 IBDVs were identified from ten provinces in China from 2009 to 2012. Partial fragments of VP2, including the hypervariable region （HVR）, from new iso- lates were sequenced and analyzed through comparisons with published sequences of IBDV, including 18 strains isolated previously by our lab and 24 reference strains from China and around the world. [Result] Phylogenetic analysis showed a co-exis- tence of IBDV strains belonging to classic, variant, attenuated, and very virulent IB- DV （wlBDV） in China. wlBDVs remain the predominant strains in China and the new subgroup was emerging. Alignment analysis revealed several distinct amino acid mutations that might be involved in virulence or antigenicity variation. [Conclu- sion] The results offered evolutionary clues showing the emerging trend of obvious variations and diversity of IBDV in major poultry-producing regions of China particu- larly in recent years. These findings will contribute to a better understanding of the genetic evolution of IBDV.展开更多
Heterosis plays an important role in the development of new crop varieties with high-yielding, good-quality and biotic/abiotic stresses while male sterile line de- velopment is the key step to determine the success of...Heterosis plays an important role in the development of new crop varieties with high-yielding, good-quality and biotic/abiotic stresses while male sterile line de- velopment is the key step to determine the success of heterosis utilization. A male sterile mutant, M207A was created in proso millet （Panicum mi/iaceurn, 2n=4x=36） for the first time using 60Co-y ray mutagenesis. Fertility identification and genetic analysis were carried out to characterize the mutant for its possible use for hetero- sis utilization in proso millet. First the sterility was investigated using both field sur- vey and indoor pollen microscopy identification. Then Pollinated by normal fertile proso millet cultivars, F1 and F2 populations from the mutant were obtained. Mean- while primary genetic analysis was also conducted using above populations in dif- ferent experimental sites, seasons and years. The results showed that the male sterile plant exhibited closed glumes, browning and dry anthers with few normal pollens. The sterility was stable and sterility rate was above 95% on average. The segregation ratio of fertile to sterile plants was 35：1 in the fertile selfing F2 popula- tion indicating that the mutant was a genic male sterility belonging to a pollen-less type controlled by a single recessive gene. The creation of the mutant, M207A can play a key role for heterosis utilization in proso millet.展开更多
[Objective] This study aimed to investigate the prevalence and variation of porcine kobuvirus （PKV） in suckling piglets in China. [Method] In 2013-2014, 224 feces samples from suckling piglets with diarrhea in 27 pi...[Objective] This study aimed to investigate the prevalence and variation of porcine kobuvirus （PKV） in suckling piglets in China. [Method] In 2013-2014, 224 feces samples from suckling piglets with diarrhea in 27 pig farms of five provinces in China were collected to detect 3D genes of PKV with RT-PCR method; the sequences and genetic variation of 29 PKV 3D genes were analyzed. [Result] Total positive rate of PKV in feces samples from suckling piglets with diarrhea was 65.18% （146/224）; total positive rate of PKV in pig farms was 85,2% （23/27）; nucleotide sequences and the deduced amino acid sequences of 29 PKV 3D genes shared 87.0%-100% and 92.7%-100% homologies with six PKV-related 3D sequences, respectively. [Conclusion] PKV infection is prevalent in suckling piglets in China; PKV 3D genes exhibit high diversity.展开更多
[Objective] The aim was to investigate the genetic diversity of the main commercial varieties of Brassica napus in Guizhou Province at the molecular level. [Method] Nine main commercial rapeseed cultivars in Guizhou w...[Objective] The aim was to investigate the genetic diversity of the main commercial varieties of Brassica napus in Guizhou Province at the molecular level. [Method] Nine main commercial rapeseed cultivars in Guizhou were detected by 40 pairs of SSR primers used in the national regional trial of B. napus, and then clus-tering analysis was carried out. [Result] A total of 191 bands were amplified, and 143 （accounting for 75%） of them showed polymorphism among the nine rapeseed cultivars. By cluster analysis, the nine cultivars were divided into two groups. Group A included seven varieties, and group B consisted of two cultivars from Guizhou In-stitute of Oil Crops. The cultivars in group A were further divided into sub-groups A1 and A2 at the similarity coefficient of 0.643 4. Sub-group A1 included three culti-vars from Guizhou Rapeseed Institute, and sub-group A2 included the other four cultivars from Guizhou Institute of Oil Crops. [Conclusion] The cultivars bred by the same institute had similar genetic background. The cultivars from Guizhou Institute of Oil Crops showed wider genetic basis. However, the genetic similarity coefficient between Qianyou 17 and Qianyou 29 was up to 0.87, suggesting that they shared closer genetic basis.展开更多
The compelling case report by Xie et al,published in a renowned medical journal,is an excellent example of meticulous clinical evaluation,comprehensive labo-ratory testing,advanced imaging,and genetic analysis.The aut...The compelling case report by Xie et al,published in a renowned medical journal,is an excellent example of meticulous clinical evaluation,comprehensive labo-ratory testing,advanced imaging,and genetic analysis.The authors identified novel compound heterozygous mutations in the hemojuvelin gene of a patient diagnosed with juvenile hemochromatosis.They suggested that long-term,strategic phlebotomy might offer a novel therapeutic strategy for severe juvenile hemochromatosis,challenging the traditional treatment paradigms.展开更多
The color difference of capsicum fruit is closely related to the type and content of pigment in the peel,which is mainly determined by anthocyanins,chlorophyll,and carotenoids.This study used green“CA59”and purple“...The color difference of capsicum fruit is closely related to the type and content of pigment in the peel,which is mainly determined by anthocyanins,chlorophyll,and carotenoids.This study used green“CA59”and purple“Z81”pepper fruits as parents to create the F2 generation.The fruit color of 466 F2 population was identified,and the extreme individuals from this population were selected for Bulked Segregant Analysis(BSA)using resequencing.Genetic analysis revealed that a pair of genes controls the expression of the purple fruit trait in capsicum.Using functional annotation,expression analysis,and sequencing analysis of candidate genes,it was determined that there were four genes in the region between InDel 67 and InDel 75(185,664,068 BP-186,514,350 bp)on chromosome 10,that is the linkage interval for pepper purple fruit.There are 7 SNPs in the CaMYB1 gene(Capann_59V1aChr10g016200)in the pepper variety“Z81”.Of these,4 SNPs are located in the gene’s coding region.These 4 SNPs lead to 2 mutations that do not change the amino acid sequence(synonymous mutations)and 2 mutations that do change the amino acid sequence(non-synonymous mutations).Additionally,the expression level of the CaMYB1 gene in the purple fruit of“Z81”is significantly higher than that in the green fruit of“CA59”.CaMYB1 is believed to be a crucial candidate gene in regulating anthocyanin production in purple capsicum fruit.A molecular marker,InDel 67,was successfully developed,with a total separation rate of 92.4%.展开更多
Efficient and accurate identification of candidate causal genes within quantitative trait loci(QTL)is a significant challenge in genetic research.Conventional linkage analysis methods often require substantial time an...Efficient and accurate identification of candidate causal genes within quantitative trait loci(QTL)is a significant challenge in genetic research.Conventional linkage analysis methods often require substantial time and resources to identify causal genes.This paper proposes a QTG-LGBM method for prioritizing causal genes in maize based on the Light GBM algorithm.QTG-LGBM dynamically adjusts gene weights and sample proportions during training to mitigate the effects of class imbalance.The method prevents overfitting in datasets with small samples by introducing a regularization term.Experimental results on maize traits,including plant height(PH),flowering time(FT),and tassel branch number(TBN),demonstrated that QTG-LGBM outperforms the commonly used methods QTG-Finder,GBDT,XGBoost,Bernoulli NB,SVM,CNN,and ensemble learning.We validated the generalization of QTG-LGBM using Arabidopsis,rice,Setaria,and sorghum.We also applied QTG-LGBM using reported QTL that affect traits of maize PH,FT and TBN,and FT in Arabidopsis,rice,and sorghum,as well as known causal genes within the QTL.When examining the top 20%of ranked genes,QTG-LGBM demonstrated a significantly higher recall rate of causal genes compared to random selection methods.We identified key gene features affecting phenotypes through feature importance analysis.QTG-LGBM is available at http://www.deepcba.com/QTG-LGBM.展开更多
Phytophthora sojae Kanfman and Gerdemann （P. sojae） is one of the most prevalent pathogens and causes Phytophthora root rot, which limits soybean production worldwide. Development of resistant cultivars is a cost-ef...Phytophthora sojae Kanfman and Gerdemann （P. sojae） is one of the most prevalent pathogens and causes Phytophthora root rot, which limits soybean production worldwide. Development of resistant cultivars is a cost-effective approach to controlling this disease. In this study, 127 soybean germplasm were evaluated for their responses to Phytophthora sojae strain Pm28 using the hypocotyl inoculation technique, and 49 were found resistant to the strain. The hypocotyl of P1, P2, F1, and F2：3 of two crosses of Ludou 4 （resistant）×Youchu 4 （susceptible） and Cangdou 5 （resistant）×Williams （susceptible） were inoculated with Pm28, and were used to analyze the inheritance of resistance. The population derived from the cross of Ludou 4×Youchu 4 was used to map the resistance gene （designated as Rps9） to a linkage group. 932 pairs of SSR primers were used to detect polymorphism, and seven SSR markers were mapped near the resistance gene. The results showed that the resistance to Pm28 in Ludou 4 and Cangdou 5 was controlled by a single dominant gene Rps9, which was located on the molecular linkage group N between the SSR markers Satt631 （7.5 cM） and Sat_186 （4.3 cM）.展开更多
To understand the genetic characteristics of a new photoperiod-sensitive genic male sterile line Mian 9S, some reciprocal crosses were made between Mian 9S and six indica rice materials, Yangdao 6, Luhui 602, Shuihui ...To understand the genetic characteristics of a new photoperiod-sensitive genic male sterile line Mian 9S, some reciprocal crosses were made between Mian 9S and six indica rice materials, Yangdao 6, Luhui 602, Shuihui 527, Mianhui 725, Fuhui 838 and Yixiang 1B. Genetic analysis results suggested that the photoperiod-sensitive genic male sterility （PGMS） of Mian 9S was controlled by a single recessive nuclear gene. Thus, the F2 population derived from the cross of Yangdao 6/Mian 9S was used to map the PGMS gene in Mian 9S. By using SSR markers, the PGMS gene of Mian 9S was mapped on one side of the markers, RM6659 and RM1305, on rice chromosome 4, with the genetic distances of 3.0 cM and 3.5 cM, respectively. The gene was a novel PGMS gene and designated tentatively as pms4. In addition, the application of the pms4 gene was discussed.展开更多
A rice etiolation mutant 824ys featured with chlorophyll deficiency was identified from a normal green rice variety 824B. It showed whole green-yellow plant from the seedling stage, reduced number of tillers and longe...A rice etiolation mutant 824ys featured with chlorophyll deficiency was identified from a normal green rice variety 824B. It showed whole green-yellow plant from the seedling stage, reduced number of tillers and longer growth duration. The contents of chlorophyll, chlorophyll a, chlorophyll b and net photosynthetic rate in leaves of the mutant obviously decreased, as well as the number of spikelets per panicle, seed setting rate and 1000-grain weight compared with its wild-type parent. Genetic analyses on F1 and F2 generations of 824ys crossed with three normal green varieties showed that the chlorophyll-deficit mutant character was controlled by a pair of recessive nuclear gene. Genetic mapping of the mutant gene was conducted by using microsatellite markers and F2 mapping population of 495R/824ys, and the mutant gene of 824ys was mapped on the short arm of rice chromosome 3. The genetic distances from the target gene to the markers RM218, RM282 and RM6959 were 25.6 cM, 5.2 cM and 21.8 cM, respectively. It was considered to be a new chlorophyll-deficit mutant gene and tentatively named as chill（t）.展开更多
One influenza H3N2 virus, A/swine/Shandong/3/2005 (Sw/SD/3/2005), was isolated from pigs with respiratory disease on a farm in eastern China. Genetic analysis revealed that Sw/SD/3/2005 was a triple-reassortant virus ...One influenza H3N2 virus, A/swine/Shandong/3/2005 (Sw/SD/3/2005), was isolated from pigs with respiratory disease on a farm in eastern China. Genetic analysis revealed that Sw/SD/3/2005 was a triple-reassortant virus with a PB2 gene from human-like H1N1, NS from classical swine H1N1, and the remaining genes from human-like H3N2 virus. These findings further support the concept that swine can serve as reservoir or mixing vessels of influenza virus strains and maintain genetic and antigenic stability of viruses. Furthermore, we have successfully established a reverse genetics system based on eight plasmids and rescued Sw/SD/3/2005 through cell transfection. HI tests and RT-PCR confirmed that the rescued virus maintained the biological properties of the wild type Sw/SD/3/2005. The successful establishment of the reverse genetics system of Sw/SD/3/2005 will enable us to conduct extensive studies of the molecular evolution of H3N2 influenza viruses in swine.展开更多
A mutant with twisted hulls was found in a breeding population of rice （Oryza sativa L.）. The mutant shows less grain weight and inferior grain quality in addition to twisted hulls. Genetic analysis indicated that t...A mutant with twisted hulls was found in a breeding population of rice （Oryza sativa L.）. The mutant shows less grain weight and inferior grain quality in addition to twisted hulls. Genetic analysis indicated that the phenotype of mutant was controlled by a single recessive gene （temporarily designated as TW（H）. To map the TWH gene, an F2 population was generated by crossing the twh mutant to R725, an indica rice variety with normal hulls. For bulked segregant analysis, the bulk of mutant plants was prepared by mixing equal amount of plant tissue from 10 twisted-hull plants and the bulk of normal plants was obtained by pooling equal amount tissue of 10 normal-hull plants. Two hundred and seven pairs of simple sequence repeat （SSR） primers, which are distributed on 12 rice chromosomes, were used for polymorphism analysis of the parents and the two bulks. The TWH locus was initially mapped close to the SSR marker RM526 on chromosome 2. Therefore, further mapping was performed using 50 pairs of SSR primers around the marker RM526. The TWH was delimited between the SSR markers RM14128 and RM208 on the long arm of chromosome 2 at the genetic distances of 1.4 cM and 2.7 cM, respectively. These results provide the foundation for further fine mapping, cloning and functional analysis of the TWH gene.展开更多
[Objective] The aim was to study the temporal and spatial characteristics and causes of cold wave in Qinhuangdao.[Method] Based on temperature data from five surface meteorological stations in Qinhuangdao from 1970 to...[Objective] The aim was to study the temporal and spatial characteristics and causes of cold wave in Qinhuangdao.[Method] Based on temperature data from five surface meteorological stations in Qinhuangdao from 1970 to 2009 and the latest standards issuing cold wave early warning signal,statistical analysis on the temporal and spatial distribution of cold wave was carried out,and the causes were discussed preliminarily.[Result] From 1970 to 2009,the frequencies of blue and yellow cold wave in Qinhuangdao region were 2 334 and 105 times respectively,and cold wave occurred most frequently in Qinglong County and least frequently in Lulong County,which was related to the effects of underlying surface,latitude and altitude.Cold wave might happen from September to next May,and the earliest occurrence date was September 9,while the latest end date was May 26.In addition,the frequency of cold wave was the highest in January and lowest in May.From 1970 to 2009,blue cold wave occurred most frequently in 1972 and 1979 and least frequently in 1984,while the frequency of yellow cold wave was the highest in 1979 and lowest in 9 years.From decadal variation,cold wave appeared most frequently in the 1970s and least frequently in the 1990s.With the increase of temperature,the frequency of cold wave showed decrease trend,and the beginning date tended to postpone,while its end date advanced,and it showed that the changes of cold wave was mainly caused by climate warming.[Conclusion] The study could provide theoretical guidance for the meteorological disaster prevention and reduction and local agricultural service.展开更多
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
基金National Key Research and Development Program for Young scientists,Grant/Award Number:2021YFF0703200National Natural Foundation Joint Fund for Regional Innovation and Development,Grant/Award Number:U21A20194+1 种基金National Natural Science Foundation of China,Grant/Award Number:32170540National Key Research and Development Program,Grant/Award Number:2022YFF0711005。
文摘Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.
文摘In this study, a hybrid machine learning (HML)-based approach, incorporating Genetic data analysis (GDA), is proposed to accurately identify the presence of adenomatous colorectal polyps (ACRP) which is a crucial early detector of colorectal cancer (CRC). The present study develops a classification ensemble model based on tuned hyperparameters. Surpassing accuracy percentages of early detection approaches used in previous studies, the current method exhibits exceptional performance in identifying ACRP and diagnosing CRC, overcoming limitations of CRC traditional methods that are based on error-prone manual examination. Particularly, the method demonstrates the following CRP identification accuracy data: 97.7 ± 1.1, precision: 94.3 ± 5, recall: 96.0 ± 3, F1-score: 95.7 ± 4, specificity: 97.3 ± 1.2, average AUC: 0.97.3 ± 0.02, and average p-value: 0.0425 ± 0.07. The findings underscore the potential of this method for early detection of ACRP as well as clinical use in the development of CRC treatment planning strategies. The advantages of this approach are highly expected to contribute to the prevention and reduction of CRC mortality.
基金Supported by Beijing Municipal Commission of Education Project(KM200910020014)~~
文摘Twenty-third collections of Salvia spp.in Beijing were analyzed phylogenetically by AFLP technique.6 primer pairs with good repetition and highly polymorphic bands from 21 pairs were selected to amplify the genomic DNA.All of 367 AFLP bands were obtained,in which 359(97.82%)were polymorphic markers.At a genetic distance of 0.32,the collections could be clustered into 7 species i.e.S.splendens,S.farinacea,S.coccinea,S.plebeia,S.miltiorrhiza,S.umbratica and S.officinalis.The respective genetic relationship be...
文摘[ Objective ] The study aimed to reveal the genetic model of a biomass mutant in Oryza sativa. [ Method ] In the process of screening and identification of Bar-transgenic rice, a biomass mutant was found in 10 lines of T1 progenies. The mutant was investigated for genetic analysis and agronomic traits by herbicide spraying and PCR amplification. [ Result] The segregation ratio is consistent with mendelian law（3：1）. The mutant assumed not only higher plant height, wider straw and earlier florescence, but also more tillers, bigger spikes and resultantly higher biomass. PCR detections indicated that no co-segregation was observed between mutant traits and target gene（Bar） in the T-DNA inserted, proving that the mutant is not caused by the insertion of T-DNA containing target gene （Bar）. [ Conclusion] Our study may avail to understand the cloning of mutant gene and the mechanism of the mutant gene on biomass.
基金This work was supported by the Program for Changjiang Scholars and Innovative Research Team in University(No.IRTO453).
文摘A mutant with abnormal hull was first discovered from a twin-seedling strain W2555 in rice （Oryza sativa L.）. The mutant had sparse branches and decreased number of florets from the base to the peak. Frequently, the florets at the top of the panicle did not develop completely. The underdeveloped florets often showed slender and white in their life cycle. Genetic analysis indicated that the mutant traits were controlled by a single recessive gene （temporarily designated as ah）. ah gene controlled the development of inflorescence meristem and the flower organ. The florets of mutant showed degenerated lemma and palea. Stamens and lodicules were homeoticly transformed into pistils and palea/lemma-like structures, respectively. It seemed that ah mutant phenotypes of the homeotic conversions in lodicules and stamens were very similar to that of the B loss-of-function spwl gene reported previously in rice.
基金Supported by National Natural Science Foundation of China(No.31430087)the Application Technology Research and Development Fund of Harbin(no.2014AB3AN058)+1 种基金the Special Fund for Scientific and Technological Innovative Talents of Harbin(No.2014RFQYJ129)the Modern Agro-industry Technology Research System of China(No.nycytx-42-G3-01)~~
文摘[Objective] Infectious bursal disease （IBD） is a highly contagious immuno- suppressive disease caused by infectious bursal disease virus （IBDV）. IBDV is ge- netically prone to mutation, which results in challenges to the disease prevention and control. Thus, it is necessary to continuously monitor the prevalence of IBDV. [Method] 36 IBDVs were identified from ten provinces in China from 2009 to 2012. Partial fragments of VP2, including the hypervariable region （HVR）, from new iso- lates were sequenced and analyzed through comparisons with published sequences of IBDV, including 18 strains isolated previously by our lab and 24 reference strains from China and around the world. [Result] Phylogenetic analysis showed a co-exis- tence of IBDV strains belonging to classic, variant, attenuated, and very virulent IB- DV （wlBDV） in China. wlBDVs remain the predominant strains in China and the new subgroup was emerging. Alignment analysis revealed several distinct amino acid mutations that might be involved in virulence or antigenicity variation. [Conclu- sion] The results offered evolutionary clues showing the emerging trend of obvious variations and diversity of IBDV in major poultry-producing regions of China particu- larly in recent years. These findings will contribute to a better understanding of the genetic evolution of IBDV.
基金Supported by the China Agricultural Research System(CARS-07-13.5-A3)the Special Financial Fund of Hebei(F16R03)~~
文摘Heterosis plays an important role in the development of new crop varieties with high-yielding, good-quality and biotic/abiotic stresses while male sterile line de- velopment is the key step to determine the success of heterosis utilization. A male sterile mutant, M207A was created in proso millet （Panicum mi/iaceurn, 2n=4x=36） for the first time using 60Co-y ray mutagenesis. Fertility identification and genetic analysis were carried out to characterize the mutant for its possible use for hetero- sis utilization in proso millet. First the sterility was investigated using both field sur- vey and indoor pollen microscopy identification. Then Pollinated by normal fertile proso millet cultivars, F1 and F2 populations from the mutant were obtained. Mean- while primary genetic analysis was also conducted using above populations in dif- ferent experimental sites, seasons and years. The results showed that the male sterile plant exhibited closed glumes, browning and dry anthers with few normal pollens. The sterility was stable and sterility rate was above 95% on average. The segregation ratio of fertile to sterile plants was 35：1 in the fertile selfing F2 popula- tion indicating that the mutant was a genic male sterility belonging to a pollen-less type controlled by a single recessive gene. The creation of the mutant, M207A can play a key role for heterosis utilization in proso millet.
文摘[Objective] This study aimed to investigate the prevalence and variation of porcine kobuvirus （PKV） in suckling piglets in China. [Method] In 2013-2014, 224 feces samples from suckling piglets with diarrhea in 27 pig farms of five provinces in China were collected to detect 3D genes of PKV with RT-PCR method; the sequences and genetic variation of 29 PKV 3D genes were analyzed. [Result] Total positive rate of PKV in feces samples from suckling piglets with diarrhea was 65.18% （146/224）; total positive rate of PKV in pig farms was 85,2% （23/27）; nucleotide sequences and the deduced amino acid sequences of 29 PKV 3D genes shared 87.0%-100% and 92.7%-100% homologies with six PKV-related 3D sequences, respectively. [Conclusion] PKV infection is prevalent in suckling piglets in China; PKV 3D genes exhibit high diversity.
基金Supported by Special Fund for Seed Breeding from Guizhou Provincial Agricultural Committee[(2012)026]Agricultural Science and Technology Research Program of Department of Science and Technology of Guizhou Province[(2013)3003]+1 种基金Agricultural Science and Technology Research Program of Department of Science and Technology of Guizhou Province[(2013)3088]a grant from the Central Authorities of China for Supporting Local Platform Construction[(2011)4001]~~
文摘[Objective] The aim was to investigate the genetic diversity of the main commercial varieties of Brassica napus in Guizhou Province at the molecular level. [Method] Nine main commercial rapeseed cultivars in Guizhou were detected by 40 pairs of SSR primers used in the national regional trial of B. napus, and then clus-tering analysis was carried out. [Result] A total of 191 bands were amplified, and 143 （accounting for 75%） of them showed polymorphism among the nine rapeseed cultivars. By cluster analysis, the nine cultivars were divided into two groups. Group A included seven varieties, and group B consisted of two cultivars from Guizhou In-stitute of Oil Crops. The cultivars in group A were further divided into sub-groups A1 and A2 at the similarity coefficient of 0.643 4. Sub-group A1 included three culti-vars from Guizhou Rapeseed Institute, and sub-group A2 included the other four cultivars from Guizhou Institute of Oil Crops. [Conclusion] The cultivars bred by the same institute had similar genetic background. The cultivars from Guizhou Institute of Oil Crops showed wider genetic basis. However, the genetic similarity coefficient between Qianyou 17 and Qianyou 29 was up to 0.87, suggesting that they shared closer genetic basis.
文摘The compelling case report by Xie et al,published in a renowned medical journal,is an excellent example of meticulous clinical evaluation,comprehensive labo-ratory testing,advanced imaging,and genetic analysis.The authors identified novel compound heterozygous mutations in the hemojuvelin gene of a patient diagnosed with juvenile hemochromatosis.They suggested that long-term,strategic phlebotomy might offer a novel therapeutic strategy for severe juvenile hemochromatosis,challenging the traditional treatment paradigms.
基金supported by the National Natural Science Foundation of China(U2IA20230)the Guangdong Modern Vegetable Industry Technology System Project(2024CXTD08)+2 种基金the Guangdong Basic and Applied Basic Research Foundation(2024A1515010403)the Xizang Autonomous Region of Lhasa City Science and Technology Project(LSKJ202418)the Guangdong Provincial Department of Agriculture and Rural Affairs(Selection and Breeding of New High-Yielding and High-Quality Pepper Varieties)(2024-NPY-00-020).
文摘The color difference of capsicum fruit is closely related to the type and content of pigment in the peel,which is mainly determined by anthocyanins,chlorophyll,and carotenoids.This study used green“CA59”and purple“Z81”pepper fruits as parents to create the F2 generation.The fruit color of 466 F2 population was identified,and the extreme individuals from this population were selected for Bulked Segregant Analysis(BSA)using resequencing.Genetic analysis revealed that a pair of genes controls the expression of the purple fruit trait in capsicum.Using functional annotation,expression analysis,and sequencing analysis of candidate genes,it was determined that there were four genes in the region between InDel 67 and InDel 75(185,664,068 BP-186,514,350 bp)on chromosome 10,that is the linkage interval for pepper purple fruit.There are 7 SNPs in the CaMYB1 gene(Capann_59V1aChr10g016200)in the pepper variety“Z81”.Of these,4 SNPs are located in the gene’s coding region.These 4 SNPs lead to 2 mutations that do not change the amino acid sequence(synonymous mutations)and 2 mutations that do change the amino acid sequence(non-synonymous mutations).Additionally,the expression level of the CaMYB1 gene in the purple fruit of“Z81”is significantly higher than that in the green fruit of“CA59”.CaMYB1 is believed to be a crucial candidate gene in regulating anthocyanin production in purple capsicum fruit.A molecular marker,InDel 67,was successfully developed,with a total separation rate of 92.4%.
基金supported by the Biological Breeding-Major Projects(2023ZD04067)Hubei Provincial Natural Science Foundation of China(2023AFB832)+1 种基金Guizhou Provincial Basic Research Program(Natural Science)(MS[2025]096)Major Project of Hubei Hongshan Laboratory(2022HSZD031)。
文摘Efficient and accurate identification of candidate causal genes within quantitative trait loci(QTL)is a significant challenge in genetic research.Conventional linkage analysis methods often require substantial time and resources to identify causal genes.This paper proposes a QTG-LGBM method for prioritizing causal genes in maize based on the Light GBM algorithm.QTG-LGBM dynamically adjusts gene weights and sample proportions during training to mitigate the effects of class imbalance.The method prevents overfitting in datasets with small samples by introducing a regularization term.Experimental results on maize traits,including plant height(PH),flowering time(FT),and tassel branch number(TBN),demonstrated that QTG-LGBM outperforms the commonly used methods QTG-Finder,GBDT,XGBoost,Bernoulli NB,SVM,CNN,and ensemble learning.We validated the generalization of QTG-LGBM using Arabidopsis,rice,Setaria,and sorghum.We also applied QTG-LGBM using reported QTL that affect traits of maize PH,FT and TBN,and FT in Arabidopsis,rice,and sorghum,as well as known causal genes within the QTL.When examining the top 20%of ranked genes,QTG-LGBM demonstrated a significantly higher recall rate of causal genes compared to random selection methods.We identified key gene features affecting phenotypes through feature importance analysis.QTG-LGBM is available at http://www.deepcba.com/QTG-LGBM.
基金supported by the Earmarked Fund for Modern Agro-Industry Technology Research System, China (nyhyzx07-053)the Program for Changjiang Scholars and Innovative Research Team in University, China (PCSIRT)the Research Fund for the Doctoral Program of Higher Education of China (20090097120023)
文摘Phytophthora sojae Kanfman and Gerdemann （P. sojae） is one of the most prevalent pathogens and causes Phytophthora root rot, which limits soybean production worldwide. Development of resistant cultivars is a cost-effective approach to controlling this disease. In this study, 127 soybean germplasm were evaluated for their responses to Phytophthora sojae strain Pm28 using the hypocotyl inoculation technique, and 49 were found resistant to the strain. The hypocotyl of P1, P2, F1, and F2：3 of two crosses of Ludou 4 （resistant）×Youchu 4 （susceptible） and Cangdou 5 （resistant）×Williams （susceptible） were inoculated with Pm28, and were used to analyze the inheritance of resistance. The population derived from the cross of Ludou 4×Youchu 4 was used to map the resistance gene （designated as Rps9） to a linkage group. 932 pairs of SSR primers were used to detect polymorphism, and seven SSR markers were mapped near the resistance gene. The results showed that the resistance to Pm28 in Ludou 4 and Cangdou 5 was controlled by a single dominant gene Rps9, which was located on the molecular linkage group N between the SSR markers Satt631 （7.5 cM） and Sat_186 （4.3 cM）.
基金the Crop Breeding Program of Sichuan Province (Grant No. 2006YZGG01)Pre-grant from Youth Science & Technology Foundation of Sichuan Province (Grant No. 07ZQ026-126)
文摘To understand the genetic characteristics of a new photoperiod-sensitive genic male sterile line Mian 9S, some reciprocal crosses were made between Mian 9S and six indica rice materials, Yangdao 6, Luhui 602, Shuihui 527, Mianhui 725, Fuhui 838 and Yixiang 1B. Genetic analysis results suggested that the photoperiod-sensitive genic male sterility （PGMS） of Mian 9S was controlled by a single recessive nuclear gene. Thus, the F2 population derived from the cross of Yangdao 6/Mian 9S was used to map the PGMS gene in Mian 9S. By using SSR markers, the PGMS gene of Mian 9S was mapped on one side of the markers, RM6659 and RM1305, on rice chromosome 4, with the genetic distances of 3.0 cM and 3.5 cM, respectively. The gene was a novel PGMS gene and designated tentatively as pms4. In addition, the application of the pms4 gene was discussed.
文摘A rice etiolation mutant 824ys featured with chlorophyll deficiency was identified from a normal green rice variety 824B. It showed whole green-yellow plant from the seedling stage, reduced number of tillers and longer growth duration. The contents of chlorophyll, chlorophyll a, chlorophyll b and net photosynthetic rate in leaves of the mutant obviously decreased, as well as the number of spikelets per panicle, seed setting rate and 1000-grain weight compared with its wild-type parent. Genetic analyses on F1 and F2 generations of 824ys crossed with three normal green varieties showed that the chlorophyll-deficit mutant character was controlled by a pair of recessive nuclear gene. Genetic mapping of the mutant gene was conducted by using microsatellite markers and F2 mapping population of 495R/824ys, and the mutant gene of 824ys was mapped on the short arm of rice chromosome 3. The genetic distances from the target gene to the markers RM218, RM282 and RM6959 were 25.6 cM, 5.2 cM and 21.8 cM, respectively. It was considered to be a new chlorophyll-deficit mutant gene and tentatively named as chill（t）.
文摘One influenza H3N2 virus, A/swine/Shandong/3/2005 (Sw/SD/3/2005), was isolated from pigs with respiratory disease on a farm in eastern China. Genetic analysis revealed that Sw/SD/3/2005 was a triple-reassortant virus with a PB2 gene from human-like H1N1, NS from classical swine H1N1, and the remaining genes from human-like H3N2 virus. These findings further support the concept that swine can serve as reservoir or mixing vessels of influenza virus strains and maintain genetic and antigenic stability of viruses. Furthermore, we have successfully established a reverse genetics system based on eight plasmids and rescued Sw/SD/3/2005 through cell transfection. HI tests and RT-PCR confirmed that the rescued virus maintained the biological properties of the wild type Sw/SD/3/2005. The successful establishment of the reverse genetics system of Sw/SD/3/2005 will enable us to conduct extensive studies of the molecular evolution of H3N2 influenza viruses in swine.
基金supported by the Program for the Agricultural Science and Technology Innovation of Hubei Province, China (Grant No. 2007-620-001-03)
文摘A mutant with twisted hulls was found in a breeding population of rice （Oryza sativa L.）. The mutant shows less grain weight and inferior grain quality in addition to twisted hulls. Genetic analysis indicated that the phenotype of mutant was controlled by a single recessive gene （temporarily designated as TW（H）. To map the TWH gene, an F2 population was generated by crossing the twh mutant to R725, an indica rice variety with normal hulls. For bulked segregant analysis, the bulk of mutant plants was prepared by mixing equal amount of plant tissue from 10 twisted-hull plants and the bulk of normal plants was obtained by pooling equal amount tissue of 10 normal-hull plants. Two hundred and seven pairs of simple sequence repeat （SSR） primers, which are distributed on 12 rice chromosomes, were used for polymorphism analysis of the parents and the two bulks. The TWH locus was initially mapped close to the SSR marker RM526 on chromosome 2. Therefore, further mapping was performed using 50 pairs of SSR primers around the marker RM526. The TWH was delimited between the SSR markers RM14128 and RM208 on the long arm of chromosome 2 at the genetic distances of 1.4 cM and 2.7 cM, respectively. These results provide the foundation for further fine mapping, cloning and functional analysis of the TWH gene.
文摘[Objective] The aim was to study the temporal and spatial characteristics and causes of cold wave in Qinhuangdao.[Method] Based on temperature data from five surface meteorological stations in Qinhuangdao from 1970 to 2009 and the latest standards issuing cold wave early warning signal,statistical analysis on the temporal and spatial distribution of cold wave was carried out,and the causes were discussed preliminarily.[Result] From 1970 to 2009,the frequencies of blue and yellow cold wave in Qinhuangdao region were 2 334 and 105 times respectively,and cold wave occurred most frequently in Qinglong County and least frequently in Lulong County,which was related to the effects of underlying surface,latitude and altitude.Cold wave might happen from September to next May,and the earliest occurrence date was September 9,while the latest end date was May 26.In addition,the frequency of cold wave was the highest in January and lowest in May.From 1970 to 2009,blue cold wave occurred most frequently in 1972 and 1979 and least frequently in 1984,while the frequency of yellow cold wave was the highest in 1979 and lowest in 9 years.From decadal variation,cold wave appeared most frequently in the 1970s and least frequently in the 1990s.With the increase of temperature,the frequency of cold wave showed decrease trend,and the beginning date tended to postpone,while its end date advanced,and it showed that the changes of cold wave was mainly caused by climate warming.[Conclusion] The study could provide theoretical guidance for the meteorological disaster prevention and reduction and local agricultural service.
