Y染色体OSU49基因座遗传多态性分析

目的调查Y染色体OSU49基因座在河南汉族群体中的遗传多态性,评价其法医学应用参数。方法知情同意情况下,采集300名河南汉族男性个体的血样本,荧光标记PCR,扩增产物采用ABI 3130遗传分析仪检测。根据分型检测结果,对不同等位基因进行序列分析(测序)。结果 OSU49基因座包含五核苷酸和四核苷酸两种核心序列。在河南汉族群体中基序表现为:(CTTTC)pCTT(CCCT)7T(CTTTC)1(TCTT)5(TCCT)m(TCTT)n TCT(TCCT)4,五核苷酸核心序列的重复次数为12~17,四核苷酸核心序列的重复次数为20~30,按其片段长度命名等位基因,共发现34个等位基因,GD值为0.918 6,DP值为0.915 5。结论 Y染色体OSU49基因座序列结构复杂,在河南汉族群体中具有较高的遗传多态性,可应用于法医学和人类遗传学研究中。

Analysis for genetic polymorphism of OSU49 locus on Y chromosome

Objective To investigate genetic polymorphism of OSU49 locus on Y chromosome among 300 unrelated males in Henan Han population and to assess its value in forensic science. Methods Under the case of informed consent, the blood samples were collected from 300 male individuals in Henan Han. The primer was labeled with florescent. PCR products were separated from ABI 3130 genetic analyzer. According to the typing test results, the sequence of different alleles was analyzed. Result OSU49 locus contained both pentanucleotide and tetranucleotide core sequence. In the Han population of Henan, the motif of OSU49 locus was showed (CTTTC)pCTT(CCCT)7 T(CTTTC)1(TCTT)5(TCCT)m(TCTT)nTCT(TCCT)4. The number of pentanucleotide repeats varied from12 to 17, and the number of tetranucleotide repeats varied from 20 to 30. Nomenclature for allele was according to the length of the fragment. A total of 34 alleles were detected. The gene diversity was 0.9186 and the discrimination power was 0.9155. Conclusion The complex repeats of locus OSU49 was highly polymorphic in Henan Han population, which can be used in forensic science and human genetics studies.