片段长度差异等位基因特异性PCR研究贵州汉族群体EsD多态性  

A study of EsD polymorphism in Han population of Guizhou using FLDAS-PCR

作　　者：孙晓宇[1] 王映雪[1] 代杰[1] 钱恩芳 蒋作林 楼迪栋[1] 

机构地区：[1]贵阳医学院法医学研究室,贵州贵阳550004

出　　处：《中国优生与遗传杂志》2015年第4期16-17,共2页Chinese Journal of Birth Health & Heredity

基　　金：2012贵州省大学生创新创业训练计划

摘　　要：目的探讨建立检测EsD点突变rs9778的片段长度差异等位基因特异性PCR技术(Fragment length discrepant allele specific PCR,FLDAS-PCR),并调查贵州汉族群体遗传学参数。方法针对EsD基因点突变(NCBI Reference SNP ID:rs9778),设计片段长度差异等位基因特异性PCR引物进行扩增,经丙烯酰胺凝胶电泳分离、银染显带后分型,并调查175例贵州省汉族无关群体等位基因数。结果片段长度差异等位基因特异性PCR技术对EsD-rs9778亚型的3种基因型分型明确。贵州省汉族人群EsD-rs9778 A/G基因频率分别为0.651和0.349,基因型频率分别为1/1 0.434、1/2 0.434和2/2 0.132,Ho 0.434、He 0.457、PIC 0.351、DP 0.599、PEt 0.176 PEd 0.103,基因型分布符合HardyWeinberg平衡。结论片段长度差异等位基因特异性PCR技术对EsD-rs9778亚型的3种基因型分型明确,该位点多态性有实际应用价值。Objective：To establish a new method for EsD-rs9778 SNP typing using fragment length discrepant allele specific PCR（FLDAS-PCR）,and study the polymorphism in Han population of Guizhou. Methods：For EsD-rs9778 loci（NCBI Reference SNP ID：rs9778）,two allele specific forward primers with different length and a public reverse primer were designed for typing of alleles after polyacrylamide gel and silver staining. Results：Typing results of EsD-rs9778 using FLDAS-PCR were distinct and consistent with expectation. The allele frequency of A/G were 0.651 and 0.349 respectively;genotypes frequency of 1/1,1/2 and 2/2 were 0.434,0.434 and 0.132 respectively;The observed heterozygosity（Hobs）,the expected heterozygosity（Hexp）,the polymorphism information content（PIC）,the discrimination power（DP）and the probability of exclusion（PE）were 0.434,0.457,0.351,0.599,0.176,and 0.103 respectively. The population data fitted the Hardy-Weinberg law. Conclusion：FLDAS-PCR was reliable and useful methods for EsD-rs9778 SNP typing. EsD-rs9778 was a high polymorphism loci for forensic identification.

关 键 词：法医物证学 酯酶D(EsD) FLDAS-PCR 遗传学多态性 单核苷酸多态性 

分 类 号：R394[医药卫生—医学遗传学]