目的探讨短串联重复序列(short tandem repeat,STR)三带型基因座同一认定似然比(likelihood ratio,LR)的不同计算策略。方法通过忽略三带型基因座、基于人群中不同类型的观测值、基于三带型基因座形成机制推导公式三个模型,对三带型基...目的探讨短串联重复序列(short tandem repeat,STR)三带型基因座同一认定似然比(likelihood ratio,LR)的不同计算策略。方法通过忽略三带型基因座、基于人群中不同类型的观测值、基于三带型基因座形成机制推导公式三个模型,对三带型基因座似然比进行计算。结果得到三个模型六种策略的LR计算方法,并分析其保守性与局限性。结论根据三体综合征发生机制推导的三带型基因座LR计算公式,可得到较为准确且可用于司法鉴定的LR值。展开更多
Objective:Interleukin-1(IL-1)is a pro-inflammatory cytokine which may be related to urolithiasis.Genetic polymorphisms of the interleukin-1beta(IL-1β)have been proposed as markers for urolithiasis in some areas.Due t...Objective:Interleukin-1(IL-1)is a pro-inflammatory cytokine which may be related to urolithiasis.Genetic polymorphisms of the interleukin-1beta(IL-1β)have been proposed as markers for urolithiasis in some areas.Due to the high incidence of urolithiasis in Uighur children(Xinjiang,China)and existence of ethnic difference,our aim is to explore the potential of IL-1 gene polymorphisms and urolithiasis among these children.Methods:Genomic DNA extracted from peripheral blood of 115 patients and 98 controls were used for genotype polymorphisms analyses.IL-1 receptor antagonist(IL-1RN)gene variable number of tandem repeat(VNTR)gene polymorphisms were analyzed by PCR method.PCR-based restriction analysis was done for the IL-1β(-511)and IL-1β(+3954)gene polymorphisms by endonucleases Ava I and Taq I,respectively.The genotype distribution,allele frequencies,carriage rate,and haplotype frequencies were statistically analyzed.Results:No significant differences were observed in genotypic frequencies between pediatric urolithiasis patients and control group for IL-1RN gene(χ^(2)=1.906,p=0.605),IL-1β(-511)gene(χ^(2)=0.105,p=0.949),or IL-1β(+3954)gene(χ^(2)=3.635,p=0.169).There were yet no significant differences of the allele frequencies of IL-1RN VNTR gene(p=0.779),IL-1β(-511)gene(p=0.941),and IL-1β(+3954)gene(p=0.418)in the case and control groups,as well as the carriage rate and haplotype of them(all p>0.05).Conclusions:The associations between IL-1RN VNTR,IL-1β(-511)and IL-1β(+3954)genes polymorphisms and urolithiasis were not significant in Uighur children.The results need to be confirmed in studies with larger population sample size,as well as in other ethnic groups.展开更多
目的比较似然比(likelihood ratio,LR)法和状态一致性(identity by state,IBS)法在半同胞关系鉴定中的应用价值,为制定半同胞鉴定相关规范提供参考。方法(1)基于相同的遗传标记组合,比较实际案例与计算机模拟案例的累计状态一致性评分(c...目的比较似然比(likelihood ratio,LR)法和状态一致性(identity by state,IBS)法在半同胞关系鉴定中的应用价值,为制定半同胞鉴定相关规范提供参考。方法(1)基于相同的遗传标记组合,比较实际案例与计算机模拟案例的累计状态一致性评分(cumulated identity by state score,CIBS)与累积全同胞关系指数分布,验证计算机模拟方法的可信度;(2)模拟获得全同胞、半同胞、无关个体对各100万对在不同数量的三种类型遗传标记上的分型,分别计算CIBS和相应类型的累积LR参数;(3)比较基于不同数据、不同种类的遗传标记、应用不同准确度标准区分上述三种关系个体对时,LR法和IBS法所能提供的最佳系统效能,以比较两种方法在上述鉴定中的应用价值;(4)根据已有模拟数据,以曲线拟合的方式估计应用不同类型遗传标记鉴别半同胞与另两种关系个体对所需的最低遗传标记数目。结果(1)经秩和检验,在真实关系和检验的遗传标记组合相同的前提下,模拟方法与实际案例所得结果差异无统计学意义;(2)多数情况下,在其他条件设置相同时,LR法的系统效能大于IBS法;(3)基于现有数据,可以通过曲线拟合的方式得到全-半同胞鉴定和半同胞鉴定在系统效能达到0.95或0.99时所需遗传标记的数目。结论在进行甄别全同胞对和半同胞对或甄别半同胞对和无关个体对的鉴定时,推荐优先使用LR法,并根据拟进行的鉴定类型和基于的人群数据估计所需遗传标记数目,以保证鉴定效果。展开更多
Mungbean （Vigna radiata （L.） Wilczek） is a unique species in its ability to fix atmospheric nitrogen, with early maturity, and relatively good drought resistance. We used 454 sequencing technology for transcriptom...Mungbean （Vigna radiata （L.） Wilczek） is a unique species in its ability to fix atmospheric nitrogen, with early maturity, and relatively good drought resistance. We used 454 sequencing technology for transcriptome sequencing. A total of 150 159 and 142 993 reads produced 5 254 and 6 374 large contigs （〉_500 bp） with an average length of 833 and 853 for Sunhwa and Jangan, respectively. Functional annotation to known sequences yielded 41.34% and 41.74% unigenes for Jangan and Sunhwa. A higher number of simple sequence repeat （SSR） motifs was identified in Jangan （1 630） compared with that of Sunhwa （1 334）. A similar SSR distribution pattern was observed in both varieties. A total of 8 249 single nucleotide polymorphisms （SNPs） and indels with 2 098 high-confidence candidates were identified in the two mungbean varieties. The average distance between individual SNPs was -860 bp. Our report demonstrates the utility of transcriptomic data for implementing a functional annotation and development of genetic markers. We also provide large resource sequence data for mungbean improvement programs.展开更多
Plant genomes harbor dozens to hundreds of nucleotide-binding site-leucine-rich repeat （NBS-LRR） genes; however, the long-term evolutionary history of these resistance genes has not been fully understood, This study...Plant genomes harbor dozens to hundreds of nucleotide-binding site-leucine-rich repeat （NBS-LRR） genes; however, the long-term evolutionary history of these resistance genes has not been fully understood, This study focuses on five Brassicaceae genomes and the Carica papaya genome to explore changes in NBS-LRR genes that have taken place in this Rosid II lineage during the past 72 million years. Various numbers of NBS-LRR genes were identified from Arabidopsis lyrata （198）, A. thaliana （165）, Brassica rapa （204）, Capsella rubella （127）, Thellungiella salsuginea （88）, and C. papaya （51）. In each genome, the identified NBS-LRR genes were found to be unevenly distributed among chromosomes and most of them were clustered together. Phylogenetic analysis revealed that, before and after Brassicaceae speciation events, both toll/interleukin-1 receptor-NBS-LRR （TNL） genes and non-toll/interleukin-1 receptor-NBS-LRR （nTNL） genes exhibited a pattern of first expansion and then contraction, suggesting that both subclasses of NBS-LRR genes were responding to pathogen pressures synchronically. Further, by examining the gain/loss of TNL and nTNL genes at different evolutionary nodes, this study revealed that both events often occurred more drastically in TNL genes. Finally, the phylogeny of nTNL genes suggested that this NBS-LRR subclass is composed of two separate ancient gene types： RPW8-NBS-LRR and Coiled-coiI-N BS-LRR.展开更多
文摘目的探讨短串联重复序列(short tandem repeat,STR)三带型基因座同一认定似然比(likelihood ratio,LR)的不同计算策略。方法通过忽略三带型基因座、基于人群中不同类型的观测值、基于三带型基因座形成机制推导公式三个模型,对三带型基因座似然比进行计算。结果得到三个模型六种策略的LR计算方法,并分析其保守性与局限性。结论根据三体综合征发生机制推导的三带型基因座LR计算公式,可得到较为准确且可用于司法鉴定的LR值。
基金This work was supported by the Natural Science Foundation of Guangdong Province,China(No.2019A1515010891).
文摘Objective:Interleukin-1(IL-1)is a pro-inflammatory cytokine which may be related to urolithiasis.Genetic polymorphisms of the interleukin-1beta(IL-1β)have been proposed as markers for urolithiasis in some areas.Due to the high incidence of urolithiasis in Uighur children(Xinjiang,China)and existence of ethnic difference,our aim is to explore the potential of IL-1 gene polymorphisms and urolithiasis among these children.Methods:Genomic DNA extracted from peripheral blood of 115 patients and 98 controls were used for genotype polymorphisms analyses.IL-1 receptor antagonist(IL-1RN)gene variable number of tandem repeat(VNTR)gene polymorphisms were analyzed by PCR method.PCR-based restriction analysis was done for the IL-1β(-511)and IL-1β(+3954)gene polymorphisms by endonucleases Ava I and Taq I,respectively.The genotype distribution,allele frequencies,carriage rate,and haplotype frequencies were statistically analyzed.Results:No significant differences were observed in genotypic frequencies between pediatric urolithiasis patients and control group for IL-1RN gene(χ^(2)=1.906,p=0.605),IL-1β(-511)gene(χ^(2)=0.105,p=0.949),or IL-1β(+3954)gene(χ^(2)=3.635,p=0.169).There were yet no significant differences of the allele frequencies of IL-1RN VNTR gene(p=0.779),IL-1β(-511)gene(p=0.941),and IL-1β(+3954)gene(p=0.418)in the case and control groups,as well as the carriage rate and haplotype of them(all p>0.05).Conclusions:The associations between IL-1RN VNTR,IL-1β(-511)and IL-1β(+3954)genes polymorphisms and urolithiasis were not significant in Uighur children.The results need to be confirmed in studies with larger population sample size,as well as in other ethnic groups.
文摘目的比较似然比(likelihood ratio,LR)法和状态一致性(identity by state,IBS)法在半同胞关系鉴定中的应用价值,为制定半同胞鉴定相关规范提供参考。方法(1)基于相同的遗传标记组合,比较实际案例与计算机模拟案例的累计状态一致性评分(cumulated identity by state score,CIBS)与累积全同胞关系指数分布,验证计算机模拟方法的可信度;(2)模拟获得全同胞、半同胞、无关个体对各100万对在不同数量的三种类型遗传标记上的分型,分别计算CIBS和相应类型的累积LR参数;(3)比较基于不同数据、不同种类的遗传标记、应用不同准确度标准区分上述三种关系个体对时,LR法和IBS法所能提供的最佳系统效能,以比较两种方法在上述鉴定中的应用价值;(4)根据已有模拟数据,以曲线拟合的方式估计应用不同类型遗传标记鉴别半同胞与另两种关系个体对所需的最低遗传标记数目。结果(1)经秩和检验,在真实关系和检验的遗传标记组合相同的前提下,模拟方法与实际案例所得结果差异无统计学意义;(2)多数情况下,在其他条件设置相同时,LR法的系统效能大于IBS法;(3)基于现有数据,可以通过曲线拟合的方式得到全-半同胞鉴定和半同胞鉴定在系统效能达到0.95或0.99时所需遗传标记的数目。结论在进行甄别全同胞对和半同胞对或甄别半同胞对和无关个体对的鉴定时,推荐优先使用LR法,并根据拟进行的鉴定类型和基于的人群数据估计所需遗传标记数目,以保证鉴定效果。
基金support of the "Cooperative Research Program for Agriculture Science & Technology Development (Project No. 200908FHT020609001)" Rural Development Administration (RDA),Republic of Korea
文摘Mungbean （Vigna radiata （L.） Wilczek） is a unique species in its ability to fix atmospheric nitrogen, with early maturity, and relatively good drought resistance. We used 454 sequencing technology for transcriptome sequencing. A total of 150 159 and 142 993 reads produced 5 254 and 6 374 large contigs （〉_500 bp） with an average length of 833 and 853 for Sunhwa and Jangan, respectively. Functional annotation to known sequences yielded 41.34% and 41.74% unigenes for Jangan and Sunhwa. A higher number of simple sequence repeat （SSR） motifs was identified in Jangan （1 630） compared with that of Sunhwa （1 334）. A similar SSR distribution pattern was observed in both varieties. A total of 8 249 single nucleotide polymorphisms （SNPs） and indels with 2 098 high-confidence candidates were identified in the two mungbean varieties. The average distance between individual SNPs was -860 bp. Our report demonstrates the utility of transcriptomic data for implementing a functional annotation and development of genetic markers. We also provide large resource sequence data for mungbean improvement programs.
基金supported by the National Natural Science Foundation of China(30930008,31170210,31200177,91231102,31300190,31400201 and 31470327)China Postdoctoral Science Foundation(2013M540435 and 2014T70503)+3 种基金Postdoctoral Science Foundation of Jiangsu Province(1302131C)Fundamental Research Funds for the Central Universities(20620140546 and 20620140558)Natural Science Founding of Jiangsu Province(BK20130565)Qing Lan Project of Jiangsu Province
文摘Plant genomes harbor dozens to hundreds of nucleotide-binding site-leucine-rich repeat （NBS-LRR） genes; however, the long-term evolutionary history of these resistance genes has not been fully understood, This study focuses on five Brassicaceae genomes and the Carica papaya genome to explore changes in NBS-LRR genes that have taken place in this Rosid II lineage during the past 72 million years. Various numbers of NBS-LRR genes were identified from Arabidopsis lyrata （198）, A. thaliana （165）, Brassica rapa （204）, Capsella rubella （127）, Thellungiella salsuginea （88）, and C. papaya （51）. In each genome, the identified NBS-LRR genes were found to be unevenly distributed among chromosomes and most of them were clustered together. Phylogenetic analysis revealed that, before and after Brassicaceae speciation events, both toll/interleukin-1 receptor-NBS-LRR （TNL） genes and non-toll/interleukin-1 receptor-NBS-LRR （nTNL） genes exhibited a pattern of first expansion and then contraction, suggesting that both subclasses of NBS-LRR genes were responding to pathogen pressures synchronically. Further, by examining the gain/loss of TNL and nTNL genes at different evolutionary nodes, this study revealed that both events often occurred more drastically in TNL genes. Finally, the phylogeny of nTNL genes suggested that this NBS-LRR subclass is composed of two separate ancient gene types： RPW8-NBS-LRR and Coiled-coiI-N BS-LRR.
基金supported by Projects in the National Science and Technology Pillar Program in the Eleventh Five-year Plan Period(2006BAI05A07)National High-Tech Research and Development Program of China(863 Program)(2006AA02A408)+5 种基金Major State Basic Research Development Program of China(973 Program)(2006cb500700)National Key Technologies Research and Development Program of China(2004BA720A03)National Natural Science Foundation of China(30400262,30470619,30710303061,30871354,30971585)New Century Excellent Talents in University of Department of EducationKey Project of Natural Science Foundation of Hunan Province(08JJ3048)Graduate Degree Thesis Innovation Foundation of Central South University(2008yb030)
