[Objective] This study was conducted to reveal seed characteristics, variation and their effects on seedling growth of ornamental lupins. [Method] The phenotypic characteristics and germination rate of the seeds of fo...[Objective] This study was conducted to reveal seed characteristics, variation and their effects on seedling growth of ornamental lupins. [Method] The phenotypic characteristics and germination rate of the seeds of four excellent lupin pedigrees were measured, and then their correlations with seeding growth were analyzed. [Result] There were abundant variations among the four ornamental lupin pedigrees. Pink seeds had the largest volume and red seeds had the largest 1 000seed weight. The variation coefficients for the seed morphological traits among the four pedigrees ranged from 2.97% to 14.34%. Seed specific weight and 1 000-seed weight could be used as important indicators for selection in breeding because of their higher variability. Seed weight variation of ornamental lupin was mainly depen- dent on seed width variation. There was small variation in seed length. The seeds of the four ornamental lupin pedigrees started to germinate one day after sowing, and the germination period was 5 d. Germination rate coefficient and germination index of pink and red seeds were higher than those of blue seeds, but blue seeds had the largest germination rate. 1 000-seed weight shared significantly positive correlations with seed germination rate, germination potential and seedling retention rate. Round and large seeds had some advantages in germination. Full seeds had higher germination rate and speed, and seedling retention rate. There was a significant relationship between seed length-width ratio and the number of leaflets of seedlings. [Conclusion] The results provided references for the evaluation of seed phenotypic diversity and breeding research of ornamental lupins.展开更多
The international recognition of the importance of genetic diversity demands continuous estimation of genetic diversity of in hand population as test of its buffering capacity against all putative threats. Randomly se...The international recognition of the importance of genetic diversity demands continuous estimation of genetic diversity of in hand population as test of its buffering capacity against all putative threats. Randomly selected Pakistani wheat varieties developed during 1965-1999 and 2000-2011 were evaluated on the basis of pedigree and SSR data. At 2nd and 3rd levels of pedigree, average occurrence of a parent per variety was 2.1 times. The dominating parents included BLUEBIRD, KALYANSONA and SIETE-CERROS-66, which were present in the pedigrees of 71.42%, 64.28%, and 58.57% varieties, respectively. The varieties INQLAB-91 and KIRAN-95 had the same pedigree and were genetically identical as revealed by SSR data. Similarly, varieties PAVON-76 and SOGHAT-90 also had the same parents in their pedigrees. This genetic similarity was also confirmed by SSR based cluster. The SSR based PC1 and PC2 showed narrow genetic diversity confirming the presence of few dominating parents. The results emphasize the inclusion of novel and genetically diverse parents in Pakistani wheat breeding programs to maintain broader genetic base of varieties/cultivars for buffering the effects of ever changing virulent pathogens and crop growth environments.展开更多
Objective The occurrence characteristic of Kashin Beck Disease (KBD) in pedigrees ascertained on the basis of one proband was estimated. Methods A total of 255 individuals in 40 pedigrees were collected from areas ...Objective The occurrence characteristic of Kashin Beck Disease (KBD) in pedigrees ascertained on the basis of one proband was estimated. Methods A total of 255 individuals in 40 pedigrees were collected from areas in the Shaanxi Province. Results ① Parents and siblings of index cases have a 3-4 times higher risk than a random unrelated individual. The odds ratio for disease is higher in mothers than in fathers of index cases; ② Prevalence in relatives of index cases (K r= 59.2% ) greatly exceeds population prevalence (K= 17.5% ); ③ K r increases with sibship size; ④ There is no significant difference of K r for male and female siblings of index cases. Also, population prevalence is not sex specific. Conclusion In conjunction with environmental agents, genetics may play an important role in KBD etiology.展开更多
Objective: To investigate population characters in high risk pedigrees of NPC in Guangdong area and to explore the effect each other between tumor genetic susceptibility and infection of EB virus on pathogenic mechani...Objective: To investigate population characters in high risk pedigrees of NPC in Guangdong area and to explore the effect each other between tumor genetic susceptibility and infection of EB virus on pathogenic mechanism. Methods: Pedigree investigation, examination of DNA fingerprint, multi-antibodies of EB virus and nasopharyngeal cavity were done for all of the members in each high risk pedigree. Results: High positive rate of EBV VCA/IgA (23.22%), high percentage of high risk population of NPC (6.53–10.40%), high detected rate of malignant tumor (9552.59/105), and high detected rate of NPC (8464.32/105) were discovered and NPC was most common in first degree relative of a pedigree. Conclusion: Tumor genetic susceptibility, infection of EB virus might play a role in coordination of reinforced effect on occurrence of NPC.展开更多
Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two cons...Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two consecutive generations.Methods From 1296 inpatients with diabetes,we selected individuals who were≤30 years of age and who were clinically suspected of having familial monogenic diabetes.Clinical data were collected from the probands and their family members.Whole-exome sequencing(WES)was used to identify possible causal variants for diabetes.Candidate pathogenic variants were verified by Sanger sequencing,assessed for cosegregation in family members,and evaluated on the basis of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(ACMG/AMP)guidelines.Moreover,missense and synonymous variants were subjected to in silico pathogenicity prediction via MutationTaster and PolyPhen-2.RNAfold was used to predict RNA structural alterations for synonymous variants.Results Twenty-five early-onset diabetes patients with a history of familial diabetes were enrolled.Pathogenic/likely pathogenic variants(p.Gly292fs in HNF1A,p.Gly245Argfs*22 in PDX1,p.Asp329His in KCNJ11,p.Leu734Phe and p.Val606Gly in WFS1)were detected in four patients,who were diagnosed accurately and treated with reasonable hypoglycemic agents based on genetic testing results.The variants of uncertain significance(ABCC8 c.3039 G>A(p.Ser1013=Ser),MAPK8IP1 p.Gln144_Gly145insSerGln,and TBC1D4 p.Arg1249Trp)were identified in three probands.Conclusion Patients with early-onset diabetes involving at least two consecutive generations may harbor genetic variants.Genetic testing in this population enables precision diagnosis,informs individualized treatment,and facilitates genetic counseling.展开更多
Objective:To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees,and to summarize their phenotypic and genotypic features.Methods:The c...Objective:To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees,and to summarize their phenotypic and genotypic features.Methods:The clinical features were recorded in detailed.The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese ATP1A2 gene variant pedigrees were perform.The correlation between the types of variants and the clinical phenotypes of ATP1A2 gene were analyzed.Results:These two pedigrees are diagnosed as familial hemiplegic migraine type 2(FHM2)with ATP1A2 heterozygous missense variants,c.1091C>T(p.T364M)found in pedigree 1 and c.899T>C(p.L300P)in pedigree 2.Multiple phenotypes coexist in both families,and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal,which can be fully recovered.ATP1A2 gene variants were seen in FHM2,sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood(AHC)families or sporadic cases,etc.The clinical features of ATP1A2 variant c.1091C>T(p.T364M)are basically similar in Chinese patients and European patients.Conclusion:These two Chinese pedigrees had FHM2 due to ATP1A2 heterozygous missense variation.It would expand the understanding of ATP1A2.展开更多
Eight hundred and ten pedigree members of 110 patients with Graves' disease were studied. In 700 first-egree relatives, inquiry of medical history, physical examination (including eyes, thyroid, heart rate, etc), ...Eight hundred and ten pedigree members of 110 patients with Graves' disease were studied. In 700 first-egree relatives, inquiry of medical history, physical examination (including eyes, thyroid, heart rate, etc), thyroid function tests (serum T3, T4 and TSH levels), determinations of thyroglobulin antibodies (TgAb) and thyroid microsomal antibodies (TmAb) were performed. For male (female) probands, the incidence of Graves' disease in male (female) first-degree relatives were investigated and their serum TgAb and TmAb were analysed. The incidence of these two kinds of autoantibodies in the male (female) first-egree relatives of familial and nonfamilial Graves' disease were analysed. Eighteen persons with positive TgAb and TmAb from 5 pedigrees had been followed up one year after initial determinations. Our results suggest that the positive rates of TgAb and TmAb in the first-egree relatives of Graves' disease were coincident with the incidence of Graves' disease, and the positive results of TgAb and TmAb in the first-egree relatives of Graves' disease may be an indicator of pre-raves' disease or pre-utoimmune thyroid diseases.展开更多
Soybean(Glycine max)variety Heihe 54 has played a crucial role in the Heihe soybean breeding program in China,contributing to the development of over 85 cultivars.To elucidate the genetic changes that have occurred ac...Soybean(Glycine max)variety Heihe 54 has played a crucial role in the Heihe soybean breeding program in China,contributing to the development of over 85 cultivars.To elucidate the genetic changes that have occurred across multiple generations of selection during soybean breeding,we conducted comprehensive genotyping analysis using the 180K Axiom SoyaSNP array on 42 varieties from the Heihe breeding program,as well as eight parental lines.Cluster analysis revealed four distinct groups,reflecting various breeding phases that incorporated diverse genetic resources as parental lines within the pedigree.A detailed examination of the graphical genotype profile across the genome identified preferred chromosome segments for specific breeding phases.These conserved blocks,which have been consistently maintained in descendant varieties during the extensive breeding period,likely harbor genes related to critical agronomic traits.This is exemplified by the consistent transmission of two segments located on chromosomes 18 and 20,which harbor the stem growth habit-related gene Dt2 and the leaflet shape-related gene Ln,respectively.The widespread cultivation of Heihe 43,a soybean cultivar developed within this pedigree,is attributed to its broad genetic base and the pyramiding of elite alleles from its parental lines.The identification of favorable chromosome segments provides valuable insight for agronomic traitrelated gene mining and targeted breeding in the future.展开更多
[Objectives]To explore the phylogenetic diversity of wetlands at the source of the Qin River and provide data reference for future research.[Methods]Taking survey data(July,2016)of plants in wetlands at the source of ...[Objectives]To explore the phylogenetic diversity of wetlands at the source of the Qin River and provide data reference for future research.[Methods]Taking survey data(July,2016)of plants in wetlands at the source of Qin River as research object,this study utilizes Phylocom 4.2 to construct plant(in wetlands at the source of Qin River)genealogical tree for 72 non-angiosperm species within research area,besides,the paper adopts Pedigree diversity index(PD),community pedigree structure index(net Relatedness index,NRI and Nearest Taxon Index,NTI)to analyze pedigree diversity and pedigree structure of plants in wetlands at the source of Qin River.This paper is going to explain the scientific question:pedigree diversity,pedigreeβdiversity,and pedigree structure of plants in wetlands at the source of Qin River,in order to study on relatedness and stability of community.[Results]The effect of habitat filtration will result in similar species adaptation and close genetic relationships in the community,manifesting as genealogy aggregation.On the contrary,the effect of competitive exclusion can lead to distant species genetic relationships in the community,manifesting as genealogy divergence.In this study,there was a tendency of aggregation among the species in sample plot S5,which indicated that the effect of habitat filtration was dominant in this plot,and in S2 and S6 the species had a decentralized trend.The NRI and NTI values in other plots were different in the positive and negative.[Conclusions]This research serves as an initial exploration of the phylogenetic diversity and community assembly mechanisms in the wetlands at the source of Qin River.Further studies incorporating environmental factors and human activities could provide deeper insights into community ecology phenomena and assembly mechanisms.展开更多
BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress ...BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress to a dilated phase of HCM(DPHCM),which is associated with a poor prognosis;however,the underlying pathogenesis remains inadequately understood.CASE SUMMARY In this study,we present a case involving a pedigree with familial DPHCM and conduct a retrospective review of patients with DPHCM with identified gene mutations.Through panel sequencing targeting the coding regions of 312 genes associated with inherited cardiomyopathy,a heterozygous missense mutation(c.746G>A,p.Arg249Glu)in the MYH7 gene was identified in the proband(III-5).Sanger sequencing subsequently confirmed this pathogenic mutation in three additional family members(II-4,III-4,and IV-3).A total of 26 well-documented patients with DPHCM were identified in the literature.Patients with DPHCM are commonly middle-aged and male.The mean age of patients with DPHCM was 53.43±12.79 years.Heart failure,dyspnoea,and atrial fibrillation were the most prevalent symptoms observed,accompanied by an average left ventricular end-diastolic size of 58.62 mm.CONCLUSION Our findings corroborate the pathogenicity of the MYH7(c.746G>A,p.Arg249Glu)mutation for DPHCM and suggest that the Arg249Gln mutation may be responsible for high mortality.展开更多
[Objective] This study aimed to develop a new Bombyx mori variety Shuhuang No.1 and investigate its characteristics.[Method] The new variety was developed through cross breeding and pedigree separation.Its characteris...[Objective] This study aimed to develop a new Bombyx mori variety Shuhuang No.1 and investigate its characteristics.[Method] The new variety was developed through cross breeding and pedigree separation.Its characteristics were identified by laboratory tests and rural promotion practices in Sichuan Province.[Result]The cocoon produced by the new variety Shuhuang No.1 was golden-yellow and radiantly beautiful.Shuhuang No.1 was strong and easy to rear,uniform in development.The male and female ones could be distinguished by their larval color and markings.The cocoon yield per 10 000 the 4th instar larvae reached 20.30 kg; the length of a cocoon filament was about 1 115.0 m,and a non-broken filament was 882.95 mm long,accounting for 79.15％ of the total length.The raw silk ratio of fresh cocoon was 18.39％,and the neatness was 91.25 point.The main economic features of Shuhuang No.1 were better than those of the control.[Conclusion] The new variety had been approved by Sichuan Silkworm Evaluation Commission.It can be promoted in parent silkworm rearing areas Sichuan,Chongqing,Yangtze River basin.展开更多
In order to provide reference for the breeding of new peanut varieties and introduction of peanut cultivars in Fujian Province, the pedigree and trait evolution of 33 peanut varieties registered （certified, identifie...In order to provide reference for the breeding of new peanut varieties and introduction of peanut cultivars in Fujian Province, the pedigree and trait evolution of 33 peanut varieties registered （certified, identified） during 1949-2011 in Fujian Province were analyzed. Results showed that, 45 parents were used as parents for peanut breeding, and 22 parents were originated from Fujian Province, 24 parents were registered varieties; Shitouqi, Yueyou 92, Shanyou 523, Quanhua No.10 and Quanhua 327 were milestone parents of peanut varieties in Fujian Province, and the phylogenetic relationship of varieties mainly came from Guangdong. Systematic se- lection was the main breeding method during 1951-1980 in Fujian Province, while crossbreeding became the main method of peanut breeding since 1991. With the variety update of peanuts, the yield levels were constantly increasing. The gradual increase of 100-pod weight and 100-kernel weight played an important role in the improvement of peanut yield. Fat content increased slightly with time, while protein content changed in contrast. Plant height was gradually decreased, and anti-lodging and fertilizer-tolerance capacity was improved, which were suitable for close planting. The total number of branches was decreased slightly, while the number of bearing branches barely changed.展开更多
To elucidate the genetic relationship of the soybean varieties registered in Henan province, we analyzed the pedigrees, the major agronomic traits, and the eco- nomic traits of 74 soybean varieties registered in Henan...To elucidate the genetic relationship of the soybean varieties registered in Henan province, we analyzed the pedigrees, the major agronomic traits, and the eco- nomic traits of 74 soybean varieties registered in Henan province from 1985 to 2012, with reference to experience and technologies beneficial to breeding. The resuits indicated that these varieties originated from 113 parents, and positive correla- tion between the yield and the number of original parents was significant. In the major agronomic traits, the growth stage was about 106 days with relatively small variation, while the final height varied largely among these varieties. Among the fac- tore affecting the final yield, the pod number per plant exhibited an increasing trend, while the variation of 100-grain weight was relatively small. More than 50% of the 113 original parents came from Henan Province and its neighbor provinces, and the genetic relationship among the registered varieties was too close. The rational criteria of yield components of soybean varieties in Henan Province should be as fol- lows： the pod number per plant was about 48. 6, with 100-grain weight ranging from 17.55 g to 21.80 g.展开更多
There is an increasing requirement for traceability of aquaculture products, both for consumer protection and for food safety. There are high error rates in the conventional traceability systems depending on physical ...There is an increasing requirement for traceability of aquaculture products, both for consumer protection and for food safety. There are high error rates in the conventional traceability systems depending on physical labels. Genetic traceability technique depending on DNA-based tracking system can overcome this problem. Genealogy information is essential for genetic traceability, and microsatellite DNA marker is a good choice for pedigree analysis. As increasing genotyping throughput of microsatellites, microsatellite multiplex PCR has become a fast and cost-effective technique. As a commercially important cultured aquatic species, Pacific oyster Crassostrea gigas has the highest global production. The objective of this study was to develop microsatellite multiplex PCR panels with dye-labeled universal primer for pedigree analysis in C. gigas, and these multiplex PCRs were validated using 12 full-sib families with known pedigrees. Here we developed six informative multiplex PCRs using 18 genomic microsatellites in C. gigas. Each multiplex panel contained a single universal primer M13(-21) used as a tail on each locus-specific forward primer and a single universal primer M13(-21) labeled with fluorophores. The polymorphisms of the markers were moderate, with an average of 10.3 alleles per locus and average polymorphic information content of 0.740. The observed heterozygosity per locus ranged from 0.492 to 0.822. Cervus simulations revealed that the six panels would still be of great value when massive families were analysed. Pedigree analysis of real offspring demonstrated that 100% of the offspring were unambiguously allocated to their parents when two multiplex PCRs were used. The six sets of multiplex PCRs can be an important tool for tracing cultured individuals, population genetic analysis, and selective breeding program in C. gigas.展开更多
Two microsateUite DNA loci were used to trace the pedigree structure of six families in the shrimp Fenneropenaeus chinensis. Four of the families were natural mating, and the others were mated by artificial inseminati...Two microsateUite DNA loci were used to trace the pedigree structure of six families in the shrimp Fenneropenaeus chinensis. Four of the families were natural mating, and the others were mated by artificial insemination. Eleven alleles were acquired at two microsatellite DNA loci （locus RS0622 and locus EN0033 ） by investigating 145 offsprings and 11 parents. Five alleles were acquired from locus RS0622 and six from locus EN0033. As analyzed, the gene frequencies were between 0. 024 1 and 0. 493 1, the heterozygosity was 0.652 2 and 0.688 8, and the polymorphism information content （PIC） was 0.585 7 and 0.652 9 for the locus RS0622 and the locus EN0033, respectively. Twenty-three genotypes were detected and the genotypes of the losing parents were also inferred. The pedigrees of three F1 and three F2 generations were determined by matching the genotype at each locus.展开更多
Urban topsoil is the most frequent interface between human society and natural environment.The accumulation of heavy metals in the urban topsoil has a direct effect on residents'life and health.The geochemical bas...Urban topsoil is the most frequent interface between human society and natural environment.The accumulation of heavy metals in the urban topsoil has a direct effect on residents'life and health.The geochemical baseline of heavy metals is an objective description of the general level of heavy metals in the urban topsoil.Meanwhile,the determination of geochemical baseline is necessary for regional environmental management,especially in coal cities prone to heavy metal pollution.Heavy metal pollution has become an environmental problem in Fuxin City,China for a long time.To establish the geochemical baseline of heavy metals in the topsoil of Fuxin City and to evaluate the ecological risk of the topsoil,we collected 75 topsoil samples(0–20 cm)and analyzed the concentrations of Cu,Ni,Zn,Pb,Cr,Cd,Hg and As through X-ray fluorescence spectrometry,atomic absorption spectrometry and inductively coupled plasma optical emission spectrometry.We determined the geochemical baseline of heavy metals in the topsoil of Fuxin City by using iteration removal,box-whisker plot,cumulative frequency curve and reference metal normalization;evaluated the contamination risk and ecological risk of the topsoil by using the baseline factor index,Nemerow index and Hakanson potential ecological risk index;and identified the source category of heavy metals in the topsoil by using a pedigree clustering heatmap.Results showed that the geochemical baseline values were 42.86,89.34,92.23,60.55,145.21,0.09,0.08 and 4.17 mg/kg for Cu,Ni,Zn,Pb,Cr,Cd,Hg and As,respectively.The results of Nemerow index and Hakanson potential ecological risk index indicated that the urban topsoil in the study area was slightly contaminated and suffering low potential ecological risk.The main contaminated areas dominated in the middle part and northeast part of the study area,especially in the western Haizhou Strip Mine.The result of baseline factor index indicated that Hg and Cd were the major pollution elements.Using a pedigree clustering heatmap,we divided the sources of these heavy metals into three types:type I for Ni and Cr,largely represented the enrichment of heavy metals from natural sources;type II for Cu,Pb,Zn,Cd and As,mainly represented the enrichment of heavy metals from anthropogenic sources;and type III for Hg,represented the form of both natural and anthropogenic inputs.展开更多
AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed usi...AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4 typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER+ phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1), which had not been reported previously, were identified. The same mutations were also found in other affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismatch repair genes. High-level microsatellite instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of mismatch repair gene might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.展开更多
Watermelon(Citrullus lanatus)is one of the world’s most important fruit crops,and China produces the most watermelons in the world.Recently,a watermelon variome consisting of 414 key resequenced accessions was report...Watermelon(Citrullus lanatus)is one of the world’s most important fruit crops,and China produces the most watermelons in the world.Recently,a watermelon variome consisting of 414 key resequenced accessions was reported.However,the genetic relationships and pedigree of Chinese watermelon varieties in the seed market remain unclear.In this study,241 evenly distributed perfect single nucleotide polymorphisms(SNPs)derived from the watermelon variome were selected for variety identification.The diversity of 247 Chinese watermelon varieties was identified based on their SNP genotypes.The 247 watermelon varieties were clustered into five subpopulations:the East Asian ecotype,intermediate ecotype,small fruit with red flesh ecotype,small fruit with yellow flesh ecotype,and American ecotype.We further established the pedigree of four subpopulations,of which JingXinNo.1,ZaoChunHongYu,HuangXiaoYu and XiaoLan,and Sugarlee were the main doner of the East Asian ecotype,small fruit with red flesh ecotype,small fruit with yellow flesh ecotype,and American ecotype,respectively.Thirty-two core SNPs were selected and applied in watermelon variety identification.They were also validated by the Kompetitive allele-specific PCR(KASPar)platform.The present study furthered our understanding of the genetic relationships and pedigree of watermelon varieties in China,and will help to manage the plant variety protection in watermelon.展开更多
To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory ...To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory hearing loss patients were tested for 1555A→G mutation using a new compact testing kit, which allows clear distinction between wild type and 1555 A→G mutated mtDNAs. Results Nineteen subjects among the 546 patients (3.48%) were found to carry mtDNA A1555G mutation. The results were confirmed by sequencing in an ABI 3100 Avant sequencer. Conclusions Maternal inherited deafness families are a frequently seen in outpatient group. The detection of mtDNA 1555 A→G mutation with a low cost, ready to use detection kit is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics.展开更多
基金Supported by Key Technology Research and Development Program of Jiangxi Province(20122BBF60111,20133BBG70013)Spark Program of Jiangxi Province(20141BBF61047)Industry-University-Research Cooperation Program of Jiangxi Academy of Sciences(2013-09)~~
文摘[Objective] This study was conducted to reveal seed characteristics, variation and their effects on seedling growth of ornamental lupins. [Method] The phenotypic characteristics and germination rate of the seeds of four excellent lupin pedigrees were measured, and then their correlations with seeding growth were analyzed. [Result] There were abundant variations among the four ornamental lupin pedigrees. Pink seeds had the largest volume and red seeds had the largest 1 000seed weight. The variation coefficients for the seed morphological traits among the four pedigrees ranged from 2.97% to 14.34%. Seed specific weight and 1 000-seed weight could be used as important indicators for selection in breeding because of their higher variability. Seed weight variation of ornamental lupin was mainly depen- dent on seed width variation. There was small variation in seed length. The seeds of the four ornamental lupin pedigrees started to germinate one day after sowing, and the germination period was 5 d. Germination rate coefficient and germination index of pink and red seeds were higher than those of blue seeds, but blue seeds had the largest germination rate. 1 000-seed weight shared significantly positive correlations with seed germination rate, germination potential and seedling retention rate. Round and large seeds had some advantages in germination. Full seeds had higher germination rate and speed, and seedling retention rate. There was a significant relationship between seed length-width ratio and the number of leaflets of seedlings. [Conclusion] The results provided references for the evaluation of seed phenotypic diversity and breeding research of ornamental lupins.
文摘The international recognition of the importance of genetic diversity demands continuous estimation of genetic diversity of in hand population as test of its buffering capacity against all putative threats. Randomly selected Pakistani wheat varieties developed during 1965-1999 and 2000-2011 were evaluated on the basis of pedigree and SSR data. At 2nd and 3rd levels of pedigree, average occurrence of a parent per variety was 2.1 times. The dominating parents included BLUEBIRD, KALYANSONA and SIETE-CERROS-66, which were present in the pedigrees of 71.42%, 64.28%, and 58.57% varieties, respectively. The varieties INQLAB-91 and KIRAN-95 had the same pedigree and were genetically identical as revealed by SSR data. Similarly, varieties PAVON-76 and SOGHAT-90 also had the same parents in their pedigrees. This genetic similarity was also confirmed by SSR based cluster. The SSR based PC1 and PC2 showed narrow genetic diversity confirming the presence of few dominating parents. The results emphasize the inclusion of novel and genetically diverse parents in Pakistani wheat breeding programs to maintain broader genetic base of varieties/cultivars for buffering the effects of ever changing virulent pathogens and crop growth environments.
文摘Objective The occurrence characteristic of Kashin Beck Disease (KBD) in pedigrees ascertained on the basis of one proband was estimated. Methods A total of 255 individuals in 40 pedigrees were collected from areas in the Shaanxi Province. Results ① Parents and siblings of index cases have a 3-4 times higher risk than a random unrelated individual. The odds ratio for disease is higher in mothers than in fathers of index cases; ② Prevalence in relatives of index cases (K r= 59.2% ) greatly exceeds population prevalence (K= 17.5% ); ③ K r increases with sibship size; ④ There is no significant difference of K r for male and female siblings of index cases. Also, population prevalence is not sex specific. Conclusion In conjunction with environmental agents, genetics may play an important role in KBD etiology.
文摘Objective: To investigate population characters in high risk pedigrees of NPC in Guangdong area and to explore the effect each other between tumor genetic susceptibility and infection of EB virus on pathogenic mechanism. Methods: Pedigree investigation, examination of DNA fingerprint, multi-antibodies of EB virus and nasopharyngeal cavity were done for all of the members in each high risk pedigree. Results: High positive rate of EBV VCA/IgA (23.22%), high percentage of high risk population of NPC (6.53–10.40%), high detected rate of malignant tumor (9552.59/105), and high detected rate of NPC (8464.32/105) were discovered and NPC was most common in first degree relative of a pedigree. Conclusion: Tumor genetic susceptibility, infection of EB virus might play a role in coordination of reinforced effect on occurrence of NPC.
基金supported by Diabetes Talent Research Project of China,International Medical Foundation 2019(No.2018-N-1).
文摘Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two consecutive generations.Methods From 1296 inpatients with diabetes,we selected individuals who were≤30 years of age and who were clinically suspected of having familial monogenic diabetes.Clinical data were collected from the probands and their family members.Whole-exome sequencing(WES)was used to identify possible causal variants for diabetes.Candidate pathogenic variants were verified by Sanger sequencing,assessed for cosegregation in family members,and evaluated on the basis of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(ACMG/AMP)guidelines.Moreover,missense and synonymous variants were subjected to in silico pathogenicity prediction via MutationTaster and PolyPhen-2.RNAfold was used to predict RNA structural alterations for synonymous variants.Results Twenty-five early-onset diabetes patients with a history of familial diabetes were enrolled.Pathogenic/likely pathogenic variants(p.Gly292fs in HNF1A,p.Gly245Argfs*22 in PDX1,p.Asp329His in KCNJ11,p.Leu734Phe and p.Val606Gly in WFS1)were detected in four patients,who were diagnosed accurately and treated with reasonable hypoglycemic agents based on genetic testing results.The variants of uncertain significance(ABCC8 c.3039 G>A(p.Ser1013=Ser),MAPK8IP1 p.Gln144_Gly145insSerGln,and TBC1D4 p.Arg1249Trp)were identified in three probands.Conclusion Patients with early-onset diabetes involving at least two consecutive generations may harbor genetic variants.Genetic testing in this population enables precision diagnosis,informs individualized treatment,and facilitates genetic counseling.
文摘Objective:To analyze the clinical manifestations and genetic examination results of affected members of two Chinese ATP1A2 gene variants pedigrees,and to summarize their phenotypic and genotypic features.Methods:The clinical features were recorded in detailed.The cranial magnetic resonance imaging for patients and gene sequencing of two Chinese ATP1A2 gene variant pedigrees were perform.The correlation between the types of variants and the clinical phenotypes of ATP1A2 gene were analyzed.Results:These two pedigrees are diagnosed as familial hemiplegic migraine type 2(FHM2)with ATP1A2 heterozygous missense variants,c.1091C>T(p.T364M)found in pedigree 1 and c.899T>C(p.L300P)in pedigree 2.Multiple phenotypes coexist in both families,and the two probands have severe cranial magnetic resonance imaging manifesting hemiplegic contralateral cortical swelling and diffusion weighted imaging hyperintense signal,which can be fully recovered.ATP1A2 gene variants were seen in FHM2,sporadic hemiplegic migraine and atypical alternating hemiplegia of childhood(AHC)families or sporadic cases,etc.The clinical features of ATP1A2 variant c.1091C>T(p.T364M)are basically similar in Chinese patients and European patients.Conclusion:These two Chinese pedigrees had FHM2 due to ATP1A2 heterozygous missense variation.It would expand the understanding of ATP1A2.
文摘Eight hundred and ten pedigree members of 110 patients with Graves' disease were studied. In 700 first-egree relatives, inquiry of medical history, physical examination (including eyes, thyroid, heart rate, etc), thyroid function tests (serum T3, T4 and TSH levels), determinations of thyroglobulin antibodies (TgAb) and thyroid microsomal antibodies (TmAb) were performed. For male (female) probands, the incidence of Graves' disease in male (female) first-degree relatives were investigated and their serum TgAb and TmAb were analysed. The incidence of these two kinds of autoantibodies in the male (female) first-egree relatives of familial and nonfamilial Graves' disease were analysed. Eighteen persons with positive TgAb and TmAb from 5 pedigrees had been followed up one year after initial determinations. Our results suggest that the positive rates of TgAb and TmAb in the first-egree relatives of Graves' disease were coincident with the incidence of Graves' disease, and the positive results of TgAb and TmAb in the first-egree relatives of Graves' disease may be an indicator of pre-raves' disease or pre-utoimmune thyroid diseases.
基金supported by a Biological Breeding-National Science and Technology Major Project(2022ZD040190301)the Agricultural Science and Technology Innovation Program(CAAS-CSNCB-202301)。
文摘Soybean(Glycine max)variety Heihe 54 has played a crucial role in the Heihe soybean breeding program in China,contributing to the development of over 85 cultivars.To elucidate the genetic changes that have occurred across multiple generations of selection during soybean breeding,we conducted comprehensive genotyping analysis using the 180K Axiom SoyaSNP array on 42 varieties from the Heihe breeding program,as well as eight parental lines.Cluster analysis revealed four distinct groups,reflecting various breeding phases that incorporated diverse genetic resources as parental lines within the pedigree.A detailed examination of the graphical genotype profile across the genome identified preferred chromosome segments for specific breeding phases.These conserved blocks,which have been consistently maintained in descendant varieties during the extensive breeding period,likely harbor genes related to critical agronomic traits.This is exemplified by the consistent transmission of two segments located on chromosomes 18 and 20,which harbor the stem growth habit-related gene Dt2 and the leaflet shape-related gene Ln,respectively.The widespread cultivation of Heihe 43,a soybean cultivar developed within this pedigree,is attributed to its broad genetic base and the pyramiding of elite alleles from its parental lines.The identification of favorable chromosome segments provides valuable insight for agronomic traitrelated gene mining and targeted breeding in the future.
文摘[Objectives]To explore the phylogenetic diversity of wetlands at the source of the Qin River and provide data reference for future research.[Methods]Taking survey data(July,2016)of plants in wetlands at the source of Qin River as research object,this study utilizes Phylocom 4.2 to construct plant(in wetlands at the source of Qin River)genealogical tree for 72 non-angiosperm species within research area,besides,the paper adopts Pedigree diversity index(PD),community pedigree structure index(net Relatedness index,NRI and Nearest Taxon Index,NTI)to analyze pedigree diversity and pedigree structure of plants in wetlands at the source of Qin River.This paper is going to explain the scientific question:pedigree diversity,pedigreeβdiversity,and pedigree structure of plants in wetlands at the source of Qin River,in order to study on relatedness and stability of community.[Results]The effect of habitat filtration will result in similar species adaptation and close genetic relationships in the community,manifesting as genealogy aggregation.On the contrary,the effect of competitive exclusion can lead to distant species genetic relationships in the community,manifesting as genealogy divergence.In this study,there was a tendency of aggregation among the species in sample plot S5,which indicated that the effect of habitat filtration was dominant in this plot,and in S2 and S6 the species had a decentralized trend.The NRI and NTI values in other plots were different in the positive and negative.[Conclusions]This research serves as an initial exploration of the phylogenetic diversity and community assembly mechanisms in the wetlands at the source of Qin River.Further studies incorporating environmental factors and human activities could provide deeper insights into community ecology phenomena and assembly mechanisms.
基金Supported by National Natural Science Foundation of China,No.81770379.
文摘BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress to a dilated phase of HCM(DPHCM),which is associated with a poor prognosis;however,the underlying pathogenesis remains inadequately understood.CASE SUMMARY In this study,we present a case involving a pedigree with familial DPHCM and conduct a retrospective review of patients with DPHCM with identified gene mutations.Through panel sequencing targeting the coding regions of 312 genes associated with inherited cardiomyopathy,a heterozygous missense mutation(c.746G>A,p.Arg249Glu)in the MYH7 gene was identified in the proband(III-5).Sanger sequencing subsequently confirmed this pathogenic mutation in three additional family members(II-4,III-4,and IV-3).A total of 26 well-documented patients with DPHCM were identified in the literature.Patients with DPHCM are commonly middle-aged and male.The mean age of patients with DPHCM was 53.43±12.79 years.Heart failure,dyspnoea,and atrial fibrillation were the most prevalent symptoms observed,accompanied by an average left ventricular end-diastolic size of 58.62 mm.CONCLUSION Our findings corroborate the pathogenicity of the MYH7(c.746G>A,p.Arg249Glu)mutation for DPHCM and suggest that the Arg249Gln mutation may be responsible for high mortality.
文摘[Objective] This study aimed to develop a new Bombyx mori variety Shuhuang No.1 and investigate its characteristics.[Method] The new variety was developed through cross breeding and pedigree separation.Its characteristics were identified by laboratory tests and rural promotion practices in Sichuan Province.[Result]The cocoon produced by the new variety Shuhuang No.1 was golden-yellow and radiantly beautiful.Shuhuang No.1 was strong and easy to rear,uniform in development.The male and female ones could be distinguished by their larval color and markings.The cocoon yield per 10 000 the 4th instar larvae reached 20.30 kg; the length of a cocoon filament was about 1 115.0 m,and a non-broken filament was 882.95 mm long,accounting for 79.15％ of the total length.The raw silk ratio of fresh cocoon was 18.39％,and the neatness was 91.25 point.The main economic features of Shuhuang No.1 were better than those of the control.[Conclusion] The new variety had been approved by Sichuan Silkworm Evaluation Commission.It can be promoted in parent silkworm rearing areas Sichuan,Chongqing,Yangtze River basin.
基金Supported by Science and Technology Spark Program of Fujian Province(2010S0018)Putian Science and Technology Project of Fujian Province(2012N05)~~
文摘In order to provide reference for the breeding of new peanut varieties and introduction of peanut cultivars in Fujian Province, the pedigree and trait evolution of 33 peanut varieties registered （certified, identified） during 1949-2011 in Fujian Province were analyzed. Results showed that, 45 parents were used as parents for peanut breeding, and 22 parents were originated from Fujian Province, 24 parents were registered varieties; Shitouqi, Yueyou 92, Shanyou 523, Quanhua No.10 and Quanhua 327 were milestone parents of peanut varieties in Fujian Province, and the phylogenetic relationship of varieties mainly came from Guangdong. Systematic se- lection was the main breeding method during 1951-1980 in Fujian Province, while crossbreeding became the main method of peanut breeding since 1991. With the variety update of peanuts, the yield levels were constantly increasing. The gradual increase of 100-pod weight and 100-kernel weight played an important role in the improvement of peanut yield. Fat content increased slightly with time, while protein content changed in contrast. Plant height was gradually decreased, and anti-lodging and fertilizer-tolerance capacity was improved, which were suitable for close planting. The total number of branches was decreased slightly, while the number of bearing branches barely changed.
基金Supported by National Soybean Industrial Technology Support Program(nycytx-004)National Scientific and Technological Innovation ProgramIndigenuous Innovative Program of Henan Academy of Agricultural Science~~
文摘To elucidate the genetic relationship of the soybean varieties registered in Henan province, we analyzed the pedigrees, the major agronomic traits, and the eco- nomic traits of 74 soybean varieties registered in Henan province from 1985 to 2012, with reference to experience and technologies beneficial to breeding. The resuits indicated that these varieties originated from 113 parents, and positive correla- tion between the yield and the number of original parents was significant. In the major agronomic traits, the growth stage was about 106 days with relatively small variation, while the final height varied largely among these varieties. Among the fac- tore affecting the final yield, the pod number per plant exhibited an increasing trend, while the variation of 100-grain weight was relatively small. More than 50% of the 113 original parents came from Henan Province and its neighbor provinces, and the genetic relationship among the registered varieties was too close. The rational criteria of yield components of soybean varieties in Henan Province should be as fol- lows： the pod number per plant was about 48. 6, with 100-grain weight ranging from 17.55 g to 21.80 g.
基金supported by the Shandong Seed Projectthe National Natural Science Foundation of China(No.31372524)Science and Technology Development Plan of Shandong Province,China(No.2014GHY 115002)
文摘There is an increasing requirement for traceability of aquaculture products, both for consumer protection and for food safety. There are high error rates in the conventional traceability systems depending on physical labels. Genetic traceability technique depending on DNA-based tracking system can overcome this problem. Genealogy information is essential for genetic traceability, and microsatellite DNA marker is a good choice for pedigree analysis. As increasing genotyping throughput of microsatellites, microsatellite multiplex PCR has become a fast and cost-effective technique. As a commercially important cultured aquatic species, Pacific oyster Crassostrea gigas has the highest global production. The objective of this study was to develop microsatellite multiplex PCR panels with dye-labeled universal primer for pedigree analysis in C. gigas, and these multiplex PCRs were validated using 12 full-sib families with known pedigrees. Here we developed six informative multiplex PCRs using 18 genomic microsatellites in C. gigas. Each multiplex panel contained a single universal primer M13(-21) used as a tail on each locus-specific forward primer and a single universal primer M13(-21) labeled with fluorophores. The polymorphisms of the markers were moderate, with an average of 10.3 alleles per locus and average polymorphic information content of 0.740. The observed heterozygosity per locus ranged from 0.492 to 0.822. Cervus simulations revealed that the six panels would still be of great value when massive families were analysed. Pedigree analysis of real offspring demonstrated that 100% of the offspring were unambiguously allocated to their parents when two multiplex PCRs were used. The six sets of multiplex PCRs can be an important tool for tracing cultured individuals, population genetic analysis, and selective breeding program in C. gigas.
基金the National High Technology Development Project of China under contract No. 2005AA603210 the National Natural Science Foundation of China under contract No. 30500378.
文摘Two microsateUite DNA loci were used to trace the pedigree structure of six families in the shrimp Fenneropenaeus chinensis. Four of the families were natural mating, and the others were mated by artificial insemination. Eleven alleles were acquired at two microsatellite DNA loci （locus RS0622 and locus EN0033 ） by investigating 145 offsprings and 11 parents. Five alleles were acquired from locus RS0622 and six from locus EN0033. As analyzed, the gene frequencies were between 0. 024 1 and 0. 493 1, the heterozygosity was 0.652 2 and 0.688 8, and the polymorphism information content （PIC） was 0.585 7 and 0.652 9 for the locus RS0622 and the locus EN0033, respectively. Twenty-three genotypes were detected and the genotypes of the losing parents were also inferred. The pedigrees of three F1 and three F2 generations were determined by matching the genotype at each locus.
基金the National Natural Science Foundation of China(41271064)the Foundation of Liaoning Educational Committee,China(L201783640)the PhD Research Startup Foundation of Liaoning University,China(BS2018L014)。
文摘Urban topsoil is the most frequent interface between human society and natural environment.The accumulation of heavy metals in the urban topsoil has a direct effect on residents'life and health.The geochemical baseline of heavy metals is an objective description of the general level of heavy metals in the urban topsoil.Meanwhile,the determination of geochemical baseline is necessary for regional environmental management,especially in coal cities prone to heavy metal pollution.Heavy metal pollution has become an environmental problem in Fuxin City,China for a long time.To establish the geochemical baseline of heavy metals in the topsoil of Fuxin City and to evaluate the ecological risk of the topsoil,we collected 75 topsoil samples(0–20 cm)and analyzed the concentrations of Cu,Ni,Zn,Pb,Cr,Cd,Hg and As through X-ray fluorescence spectrometry,atomic absorption spectrometry and inductively coupled plasma optical emission spectrometry.We determined the geochemical baseline of heavy metals in the topsoil of Fuxin City by using iteration removal,box-whisker plot,cumulative frequency curve and reference metal normalization;evaluated the contamination risk and ecological risk of the topsoil by using the baseline factor index,Nemerow index and Hakanson potential ecological risk index;and identified the source category of heavy metals in the topsoil by using a pedigree clustering heatmap.Results showed that the geochemical baseline values were 42.86,89.34,92.23,60.55,145.21,0.09,0.08 and 4.17 mg/kg for Cu,Ni,Zn,Pb,Cr,Cd,Hg and As,respectively.The results of Nemerow index and Hakanson potential ecological risk index indicated that the urban topsoil in the study area was slightly contaminated and suffering low potential ecological risk.The main contaminated areas dominated in the middle part and northeast part of the study area,especially in the western Haizhou Strip Mine.The result of baseline factor index indicated that Hg and Cd were the major pollution elements.Using a pedigree clustering heatmap,we divided the sources of these heavy metals into three types:type I for Ni and Cr,largely represented the enrichment of heavy metals from natural sources;type II for Cu,Pb,Zn,Cd and As,mainly represented the enrichment of heavy metals from anthropogenic sources;and type III for Hg,represented the form of both natural and anthropogenic inputs.
基金Supported by the Shanghai Medical Development Project,No.993025
文摘AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4 typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER+ phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1), which had not been reported previously, were identified. The same mutations were also found in other affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismatch repair genes. High-level microsatellite instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of mismatch repair gene might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.
基金supported by the Beijing Academy of Agricultural and Forestry Sciences (Grant Nos. KJCX201907-2, QNJJ201813, and KJCX20200303)the National Key Research and Development Program of China (Grant No. 2017YFD0102004)
文摘Watermelon(Citrullus lanatus)is one of the world’s most important fruit crops,and China produces the most watermelons in the world.Recently,a watermelon variome consisting of 414 key resequenced accessions was reported.However,the genetic relationships and pedigree of Chinese watermelon varieties in the seed market remain unclear.In this study,241 evenly distributed perfect single nucleotide polymorphisms(SNPs)derived from the watermelon variome were selected for variety identification.The diversity of 247 Chinese watermelon varieties was identified based on their SNP genotypes.The 247 watermelon varieties were clustered into five subpopulations:the East Asian ecotype,intermediate ecotype,small fruit with red flesh ecotype,small fruit with yellow flesh ecotype,and American ecotype.We further established the pedigree of four subpopulations,of which JingXinNo.1,ZaoChunHongYu,HuangXiaoYu and XiaoLan,and Sugarlee were the main doner of the East Asian ecotype,small fruit with red flesh ecotype,small fruit with yellow flesh ecotype,and American ecotype,respectively.Thirty-two core SNPs were selected and applied in watermelon variety identification.They were also validated by the Kompetitive allele-specific PCR(KASPar)platform.The present study furthered our understanding of the genetic relationships and pedigree of watermelon varieties in China,and will help to manage the plant variety protection in watermelon.
文摘To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory hearing loss patients were tested for 1555A→G mutation using a new compact testing kit, which allows clear distinction between wild type and 1555 A→G mutated mtDNAs. Results Nineteen subjects among the 546 patients (3.48%) were found to carry mtDNA A1555G mutation. The results were confirmed by sequencing in an ABI 3100 Avant sequencer. Conclusions Maternal inherited deafness families are a frequently seen in outpatient group. The detection of mtDNA 1555 A→G mutation with a low cost, ready to use detection kit is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics.
