The genetic models are greatly important in the analysis of genetic epidemiologic studies and many of the studies are conducted using the trend test under the additive model. However, for many complex diseases and tra...The genetic models are greatly important in the analysis of genetic epidemiologic studies and many of the studies are conducted using the trend test under the additive model. However, for many complex diseases and traits, the underlying genetic model for a genetic locus is usually uncertain. So a robust test free of genetic model is appropriate. In this paper, the authors propose a model-embedded trend test by incorporating Hardy-Weinberg equilibrium information and obtain the explicit formula to calculate its statistical significance. Extensive simulation studies show the proposed test is more robust than the existing procedures. Finally, a real application is further analyzed to show the performance of the proposed test.展开更多
The existence of the genome population in condition of radiation environment has been considered. The differences between the laws of the allele frequencies for autosomal genes and genes linked to sex are described. R...The existence of the genome population in condition of radiation environment has been considered. The differences between the laws of the allele frequencies for autosomal genes and genes linked to sex are described. Radiation conditions were found at maintenance of the balance of the Hardy-Weinberg genotype in the population, as well as conditions of complete elimination of the targeted allele by ionizing radiation. Conclusions about the nature of radiation resistance of the population are drawn.展开更多
Epistasis is the interaction between two or more genes to control a single phenotype. We model epistasis of the prey in a two-locus two-allele problem in a basic predator-prey relationship. The resulting model allows ...Epistasis is the interaction between two or more genes to control a single phenotype. We model epistasis of the prey in a two-locus two-allele problem in a basic predator-prey relationship. The resulting model allows us to examine both population sizes as well as genotypic and phenotypic frequencies. In the context of several numerical examples, we show that if epistasis results in an undesirable or desirable phenotype in the prey by making the particular genotype more or less susceptible to the predator or dangerous to the predator, elimination of undesirable phenotypes and then genotypes occurs.展开更多
为筛选出策勒黑羊种质资源繁殖和抗逆性状分子标记和相关基因,本研究以100只无亲缘关系的策勒黑羊为研究对象,基于Illumina ovine SNP 50 K bead chip进行基因分型;用Plink1.90对基因组数据进行质量控制;对有效SNPs计算哈代-温伯格值,...为筛选出策勒黑羊种质资源繁殖和抗逆性状分子标记和相关基因,本研究以100只无亲缘关系的策勒黑羊为研究对象,基于Illumina ovine SNP 50 K bead chip进行基因分型;用Plink1.90对基因组数据进行质量控制;对有效SNPs计算哈代-温伯格值,选择从小到大排列后前1%的分子标记,参考绵羊基因组(Oar_v4.0)进行注释,对注释到的基因进行GO和KEGG分析。结果表明:1)共获得480个SNPs,417个候选基因,其中,繁殖性状基因13个、抗逆性状相关基因30个;2)繁殖性状相关的基因有SOX9、GTF2A1、GNAQ等,抗逆性相关的基因有TMEM154、ZNF70、CREB3L2等。综上,本研究解析了策勒黑羊繁殖和抗逆性状基因的遗传规律,特别是对抗逆性相关候选基因研究,发现策勒黑羊群体携带抗肺炎相关的分子标记,为策勒黑羊保种和改良提供了分子水平的参考。展开更多
Objective To analyze the genetic polymorphism of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613) on chromosome 12 in Chinese Han population. Methods EDTA-blood specimens were collected from 1...Objective To analyze the genetic polymorphism of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613) on chromosome 12 in Chinese Han population. Methods EDTA-blood specimens were collected from 153 unrelated individuals of Chinese Han population in Shaanxi province. Allele and genotype frequencies for the 6 STR loci were estimated and statistical parameters of polymorphism were calculated. Results 8 alleles and 18 genotypes, 10 alleles and 17 genotypes, 9 alleles and 15 genotypes, 12alleles and 29 genotypes, 12 alleles and 31 genotypes, 8 alleles and 11 genotypes were observed at D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613, respectively. No deviations of the observed allele frequency from Hardy-weinberg equilibrium expectations were found for any of these loci. The Heterozygotes of these 6 loci were 78.89%, 66.10%, 54.95%, 79.10%, 71.98% and 59.48%, respectively. It indicated the high genetic polymorphism of the loci in Chinese Han population. Conclusion The 6 STR loci belonged to the genetic marker system of high discriminutesation and high information in Chinese Han population and can be used in the study of gene-related diseases.展开更多
Objective To analyze the genetic polymorphism of 5 STR loci (D12S304, D12S313, D12S1583, D12S1640 and D12S1708) on chromosome 12 in Chinese Han population. Methods EDTA-anticoagulated blood specimens were collected fr...Objective To analyze the genetic polymorphism of 5 STR loci (D12S304, D12S313, D12S1583, D12S1640 and D12S1708) on chromosome 12 in Chinese Han population. Methods EDTA-anticoagulated blood specimens were collected from unrelated individuals of Chinese Han population in Shaanxi province. DNA samples were extracted with the Wizard Genomic DNA purification Kit and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by ABI 3100 Genetic Analyzer. Results All 5 loci were in Hardy-Weinberg equilibrium. Allele and genotype frequencies, heterozygosity, power of discrimination, polymorphism information content, probability of paternity exclusion and matching probability of each locus were calculated in Excel 2002. Conclusion They are complex loci with lots of evenly distributed alleles and high heterozygosity in Chinese Han population. Thus they are informative polymorphic loci and valuable DNA marker which represents a superior alternative to many established STRs.展开更多
The discovery of the Hardy-Weinberg principle marked the beginning of the field of population genetics.Over the past hundred years,it has provided a starting point for many population genetic investigations.In this re...The discovery of the Hardy-Weinberg principle marked the beginning of the field of population genetics.Over the past hundred years,it has provided a starting point for many population genetic investigations.In this review,the Hardy-Weinberg principle,its statistical testing,and several of its applications in various modern population genetic research areas,including allelic variability and selection in the human leukocyte antigen region,microsatellite genotyping error detection,and accuracy of haplotype estimation,are discussed.展开更多
基金partial supported by Special National Key Research and Development Plan under Grant No.2016YFD0400206the Breakthrough Project of Strategic Priority Program of Chinese Academy of Sciences under Grant No.XDB13040600+2 种基金Youth Innovation Promotion Association of Chinese Academy of Sciencethe National Science Foundation of China under Grant Nos.11371353,11661080,61134013Special Fund of the University of Chinese Academy of Sciences for Scientific Research Cooperation
文摘The genetic models are greatly important in the analysis of genetic epidemiologic studies and many of the studies are conducted using the trend test under the additive model. However, for many complex diseases and traits, the underlying genetic model for a genetic locus is usually uncertain. So a robust test free of genetic model is appropriate. In this paper, the authors propose a model-embedded trend test by incorporating Hardy-Weinberg equilibrium information and obtain the explicit formula to calculate its statistical significance. Extensive simulation studies show the proposed test is more robust than the existing procedures. Finally, a real application is further analyzed to show the performance of the proposed test.
文摘The existence of the genome population in condition of radiation environment has been considered. The differences between the laws of the allele frequencies for autosomal genes and genes linked to sex are described. Radiation conditions were found at maintenance of the balance of the Hardy-Weinberg genotype in the population, as well as conditions of complete elimination of the targeted allele by ionizing radiation. Conclusions about the nature of radiation resistance of the population are drawn.
文摘Epistasis is the interaction between two or more genes to control a single phenotype. We model epistasis of the prey in a two-locus two-allele problem in a basic predator-prey relationship. The resulting model allows us to examine both population sizes as well as genotypic and phenotypic frequencies. In the context of several numerical examples, we show that if epistasis results in an undesirable or desirable phenotype in the prey by making the particular genotype more or less susceptible to the predator or dangerous to the predator, elimination of undesirable phenotypes and then genotypes occurs.
文摘为筛选出策勒黑羊种质资源繁殖和抗逆性状分子标记和相关基因,本研究以100只无亲缘关系的策勒黑羊为研究对象,基于Illumina ovine SNP 50 K bead chip进行基因分型;用Plink1.90对基因组数据进行质量控制;对有效SNPs计算哈代-温伯格值,选择从小到大排列后前1%的分子标记,参考绵羊基因组(Oar_v4.0)进行注释,对注释到的基因进行GO和KEGG分析。结果表明:1)共获得480个SNPs,417个候选基因,其中,繁殖性状基因13个、抗逆性状相关基因30个;2)繁殖性状相关的基因有SOX9、GTF2A1、GNAQ等,抗逆性相关的基因有TMEM154、ZNF70、CREB3L2等。综上,本研究解析了策勒黑羊繁殖和抗逆性状基因的遗传规律,特别是对抗逆性相关候选基因研究,发现策勒黑羊群体携带抗肺炎相关的分子标记,为策勒黑羊保种和改良提供了分子水平的参考。
文摘Objective To analyze the genetic polymorphism of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613) on chromosome 12 in Chinese Han population. Methods EDTA-blood specimens were collected from 153 unrelated individuals of Chinese Han population in Shaanxi province. Allele and genotype frequencies for the 6 STR loci were estimated and statistical parameters of polymorphism were calculated. Results 8 alleles and 18 genotypes, 10 alleles and 17 genotypes, 9 alleles and 15 genotypes, 12alleles and 29 genotypes, 12 alleles and 31 genotypes, 8 alleles and 11 genotypes were observed at D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613, respectively. No deviations of the observed allele frequency from Hardy-weinberg equilibrium expectations were found for any of these loci. The Heterozygotes of these 6 loci were 78.89%, 66.10%, 54.95%, 79.10%, 71.98% and 59.48%, respectively. It indicated the high genetic polymorphism of the loci in Chinese Han population. Conclusion The 6 STR loci belonged to the genetic marker system of high discriminutesation and high information in Chinese Han population and can be used in the study of gene-related diseases.
文摘Objective To analyze the genetic polymorphism of 5 STR loci (D12S304, D12S313, D12S1583, D12S1640 and D12S1708) on chromosome 12 in Chinese Han population. Methods EDTA-anticoagulated blood specimens were collected from unrelated individuals of Chinese Han population in Shaanxi province. DNA samples were extracted with the Wizard Genomic DNA purification Kit and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by ABI 3100 Genetic Analyzer. Results All 5 loci were in Hardy-Weinberg equilibrium. Allele and genotype frequencies, heterozygosity, power of discrimination, polymorphism information content, probability of paternity exclusion and matching probability of each locus were calculated in Excel 2002. Conclusion They are complex loci with lots of evenly distributed alleles and high heterozygosity in Chinese Han population. Thus they are informative polymorphic loci and valuable DNA marker which represents a superior alternative to many established STRs.
文摘The discovery of the Hardy-Weinberg principle marked the beginning of the field of population genetics.Over the past hundred years,it has provided a starting point for many population genetic investigations.In this review,the Hardy-Weinberg principle,its statistical testing,and several of its applications in various modern population genetic research areas,including allelic variability and selection in the human leukocyte antigen region,microsatellite genotyping error detection,and accuracy of haplotype estimation,are discussed.
