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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。
Objective To investigate the genetic polymorphism of the Y chromosome OSU49 locus in Henan Han population and evaluate its forensic application parameters. Methods With informed consent, blood samples from 300 male Han nationality individuals in Henan were collected. Fluorescent PCR was carried out. The amplified products were detected by ABI 3130 genetic analyzer. According to the typing results, different alleles were sequenced (sequenced). Results The OSU49 locus contains two kinds of core sequences, pentinucleotide and tetranucleotide. In Henan Han population, the motifs were as follows: (CTTTC) pCTT (CCCT) 7T (CTTTC) 1 (TCTT) 5 (TCCT) m (TCTT) n TCT 12 to 17, the number of repeat of the tetranucleotide core sequence was 20 to 30, and 34 alleles were found according to the length of the fragment. The GD value was 0.918 6 and the DP value was 0.915 5. Conclusion The sequence of OSU49 locus in Y chromosome is complex and has a high genetic polymorphism in Henan Han population. It can be used in forensic and human genetics research.