隔离群体中3个Y-STR基因座的遗传多态性分析

目的 了解3个Y染色体上短串联重复序列（short tandem repeat on Y chromosome,Y-STR)基因座在隔离群体中的多态性，探讨用Y－STR分析群体亲缘关系的可能性。方法 在377测序仪上基因扫描技术对浙江省两个海岛隔离群体（80人和60人），和1个开放群体（36人）的DYS388、DYS390`DYS395进行检测。结果 DYS388、DYS390、DYS395在渔山岛、桃花岛、开放群体中的等位基因数分别为8、9、7；5、6、7；6、6、5。3个群体中每个Y－STR基因的基因多样性在0.80-0.80之间。隔离群体和开放群体在等位基因的频率分布、相同基因型数的分布差异无显著性。遗传距离最大的桃花岛与开放群体，其次是渔山岛与桃花岛群体，最小的是渔山岛和开放群体。结论 DYS388的常见等位基因为129，DYS390、DYS395分别为215和119。DYS388、DYS390、DYS395的基因频率、基因多样性、群体的相同基因型分布和遗传距离均不能说明隔离群体之间、以及与开放群体的亲缘关系程度，提示用Y－STR分析群体亲缘关系须在增加样本量的基础上进行继续深入的研究。

Analysis of three Y-STR loci polymorphism in isolated populations

Objective To figure out the polymorphism of three Y-STR loci in isolated populations and explore the consanguinity of the populations with the use of Y-STR. Methods Male samples were selected from two isolated populations(80 and 60 males) in Zhejiang province and one open population (36 males), genescan was performed with males' DNA by genescan technology with ABI PRISM 377 sequencer at Y chromosome loci DYS388, DYS390 and DYS395. Results DYS388,DYS390, DYS395 allele counts in Yushan island population, Taohua island population and open population were 8,9,7;5,6,7;and 6,6,5 respectively. Gene diversity was between 0.70-0.80 in the three populations. There was no difference in distribution of allele frequency and shared genotypes between the isolated populations and the open population by statistical test. Genetic distance is long between Taohua island population and open population, short between Yushan island population and open population, and moderate between Yushan island population and Taohua island population. Conclusion The main allele is 129 at DYS388; 215 at DYS390; and 119 at DYS395. The distribution of allele frequency and gene diversity at DYS388, DYS390, DYS395 loci, and the shared genotypes between populations as well as the genetic distance are unable to explain the blood relationship between the isolated and open populations, suggesting the additional studies in large sample size will be necessary to use Y-STR for exploring the blood relationship between populations.