多拷贝基因座DYF399S1在河南汉族群体中的遗传多态性分析*
Analysis of genetic polymorphism of multi？？copy Y？？STR marker DYF399S1 among Han population in Henan Province

摘要目的：研究Y染色体上1个新的多拷贝短串联重复序列基因座DYF399S1在河南汉族群体中的遗传多态性。 方法：采集248名河南汉族无关男性个体的血标本，提取基因组DNA，PCR法扩增，用中性聚丙烯酰胺凝胶电泳分离PCR产物并测序， 采用ABI 3130基因自动分析仪和GeneMapper ID v3.5软件分析结果。结果：DYF399S1基因座为3拷贝，在河南汉族群体继续表现为(GAAA)3N7(GAAA)12？？22其模块结构包括1个重复数目变异的核心序列和1个固定的重复序列结构。按其变异模块命名等位基因，共发现11个等位基因。在248名河南汉族无关男性个体中，3个拷贝组成的单体型有94种，其中出现最多的单体型是18/18/18，频率是0.080 6，仅出现1次的单体型有49种，频率是0.004 0；单体型辨别能力（DC）是0.372 5, 单体型多样性（HD）和个体识别力（DP）分别为0.865 5和0.862 1。结论：DYF399S1基因座具有高度的多态性，适用于法医学实践和人类进化的研究。
AbstractAim: To investigate the genetic polymorphism of a new multi？？copy locus DYF399S1 on Y chromosome among Han population in Henan Province. Methods: The products amplified using fluorescent？？PCR from 248 unrelated Henan Han males were separated and the allelic fragments were sequenced on ABI 3130 genetic analyzer.Results: DYF399S1 was a three？？copies locus. The core sequence was GAAA and the alleles were from 12 to 22. The motif of DYF399S1 locus included 1 stable and 1 variant repeat structure, namely, (GAAA)3N7 (GAAA)12？？22. A total of 94 haplotypes were identified among 248 unrelated men from Henan Han populations. Out of them, the most frequent haplotype was 18/18/18 and the frequency was 0.080 6; 49 types were observed once only and the frequency was 0.004 0. The discrimination capacity(DC) was 0.372 5, and the haplotype diversity and the discriminating power were 0.865 5 and 0.862 1, respectively. Conclusion: DYF399S1 locus is a highly polymorphic marker and useful for applying to forensic medicine and human evolution study