Abstract:

Objective Aimed to investigate genetic polymorphisms of 19 X-chromosome short tandem repeat （X-STR） panel in Henan Han population and assess its value for forensic applications. Methods Oral swab DNA templates were selected from 519 unrelated individuals in Henan Han population, and genetic marker was detected using the AGCU X19 fluorescence detection system （DXS7423, DXS10148, DXS8378, DXS10162, DXS7132, DXS10079, DXS10103, DXS10101, HPTRB, DXS10074 and DXS10135, DXS10159, DXS10164, DXS10075, DXS6809, DXS6789, DXS7424, DXS101 and DXS10134） based on electrophoresis. Results The genotype ferquencies of the 19 X-STR loci, except DXS10134, was in accordance with Hardy-Weinberg equilibrium （Bonferroni correction P>0.000 2=0.05/233）. Two hundred and nineteen alleles were detected in 519 unrelated individuals of Henan Han Chinese with gene frequency between 0.001 3 and 0.613 0. The observed heterozygosity （Ho） of the 19 loci ranged from 0.553 7 to 0.922 8, the theoretical heterozygosity （He） ranged from 0.542 8 to 0.925 2, and the polymorphic information content （PIC） ranged from 0.4541 to 0.918 9. Conclusion The 19 X-STR loci have high genetic polymorphism in Henan Han population, which can conform to the requirement of forensic application. Futher more, the panel has an advantage on the forensic practice of complex kinship identification and difficult mixed examination materials.

Key words:

forensic genetics, X-chromosome short tandem repeat （X-STR）, genetic polymorphism, genetic relationship

摘要：

目的 调查河南汉族人群中19个X染色体短串联重复序列（X-chromosome short tandem repeat， X-STR）基因座的遗传多态性，评估其在法医学应用中的价值。方法 选取河南汉族人群519名无关个体口腔拭子DNA模板，使用AGCU X19 STR荧光检测体系（DXS7423、 DXS10148、 DXS8378、DXS10162、 DXS7132、 DXS10079、DXS10103、DXS10101、HPTRB、DXS10074和DXS10135、DXS10159、DXS10164、DXS10075、DXS6809、DXS6789、DXS7424、DXS101和DXS10134）进行电泳检测。结果 19个X-STR基因座中除了DXS10134外，其余基因座的基因型分布均符合Hardy-Weinberg平衡（Bonferroni校正P>0.000 2=0.05/233），519个河南汉族无关个体共检出219个等位基因，频率为0.001 3～0.613 0。19个基因座的观察杂合度（Ho）为0.553 7～0.922 8，理论杂合度（He）为0.542 8～0.925 2，多态信息含量（PIC）为0.454 1～0.918 9。结论 19个X-STR基因座在河南汉族人群中具有较高的遗传多态性，可满足法医学实际应用，在复杂亲缘关系鉴定和疑难混合检材的法医实践中有特殊的应用价值。

关键词:

法医遗传学, X染色体短串联重复序列, 遗传多态性, 遗传关系