湖北地区汉族人群24个 Y-STR基因座遗传多态性研究

目的 对湖北汉族人群24个Y-STR基因座多态性进行调查,并获得相关的基础遗传学数据.方法 应用AGCU Y24 STR荧光标记复合直接扩增系统及3130XL型DNA测序仪,对湖北地区320对已确定父子关系的640个男性个体血样进行24个Y-STR检测分型.结果 在320名父亲男性个体中,在DYS391、DYS389工、DYS439、DYS389Ⅱ、DYS438、DYS449、DYS456、DYS458、DYS437、DYS635、DYS448、Y-GATA-H4、DYS447、DYS19、DYS392、DYS522、DYS393、DYS388、DYS390、DYS444基因座在湖北地区汉族人群分别检出4～17个等位基因,DYS527a/b检出45个等位基因组,DYS385a/b检出57个等位基因组,各基因座基因多样性最低为0.3838,最高为0.9650;并检出320种单倍型.比对320对父子Y-STR分型,在7680次基因遗传传递中,在DYS449、DYS527、DYS444、DYS389Ⅱ、DYS447、DYS522、DYS385、Y-GATA-H4等10个基因座中检出16个突变,突变率为1.5625‰～1.5653％,平均突变率为2.0833‰;等位基因增加突变与等位基因减少突变比为1∶1.结论 24个基因座单倍型在湖北地区汉族人群中具有丰富的遗传多态性,其数据对法医学应用、Y-STR数据库建设和群体遗传学等研究应用具有重要意义.

Study on genetic polymorphism and mutation of 24 Y-STR loci for Han population in Hubei

Objective To obtain genetics polymorphism data of 24 Y-STR loci of Han population in Huhei province. Methods 24 YSTR of 320 fathers and their son were typered by using AGCU Y-STR amplification system and 3130XL Genetic Analysiser. Results 4 to 17 ladder alleles （at DYS391, DYS389, DYS439, DYS389 Ⅱ , DYS438, DYSA49, DYSA56, DYS458, DYS437, DYS635, DYS448, Y-GATA-H4, DYS447, DYS19, DYS392, DYS522, DYS393, DYS388, DYS390, DYS444）were found, 45 ladder alleles of DYSS27a/b were found, and 57 ladder alleles of DYS385a/b were found. The lowest gene diversity was 0. 3838, the highest gene diversity was 0. 9650, 320 haplotypes were detected. 16 mutations in DYS449, DYS527, DYS444, DYS389 Ⅱ, DYS447, DYS522, DYS385, Y-GATA-H4 had been detected, the mutation rate was 1. 5625‰-1. 5653%, the aver- age mutation rate was 2. 0833‰, and the allele increase or allele decrease in the mutation was 1 ： 1. Conclusion Y haplotypes of 24 Y-STR of Han population in Hubei has abundant genetic polymorphism. It is of great significance for forensic applications, Y- STR database and population genetics research.