【摘要】 目的:研究天津市汉族人群DYS19、DYS390和DYS393 3个短串联重复序列(STR)基因座遗传多态性,获得该地区相关群体遗传学数据,为用STR基因座进行染色体非整倍体及基因异常的诊断与产前诊断提供实验依据。方法:利用定量荧光PCR(QF-PCR)对天津地区无血缘关系的200名男性Y染色体3个STR基因座进行扩增、毛细管电泳检测扩增产物、ABI3730全自动DNA遗传分析仪进行结果分析,3个基因座分别选择两个片段测序、命名。统计各基因座基因频率,计算基因差异性(GD)及单倍型多样性(HD)。结果:DYS19、DYS390和DYS393 3个STR基因座分别检出5、6、6个等位基因,基因频率分别分布在0.070 0~0.377 5,0.005 0~0.390 0及0.005 0~0.540 0之间;GD值分别为0.743、0.731及0.634,HD为0.706 8。结论:天津汉族人群3个Y-STR基因座多态性高,是Y染色体良好的遗传标记。更多还原

【Abstract】 Objective:To study the genetic polymorphism of the three STR loci DYS19, DYS390 and DYS393 of Han population in Tianjin, China, to get the population genetic data and to provide the experimental basis for the research on population genetics, gene diagnosis and prenatal gene diagnosis of chromosomal aneuploidy and genetic abnormality. Methods: QF-PCR and capillary electrophoresis were applied to 200 unrelated individuals of Tianjin Han population of China. The relevant data were analyzed by ABI 3730.Gene frequency, gene diversity and haplotype diversity were counted. Results: Five, five and six alleles were found in DYS19, DYS390 and DYS393 locus, respectively. The gene frequencies were between 0.0700~0.377 5, 0.005 0~0.390 0 and 0.005 0 ~0.540 0 and the gene diversities were 0.743, 0.731 and 0.634. The haplotype diversity was 0.706 8. Conclusion: DYS19, DYS390 and DYS393 locus are highly polymorphism in Tianjin Han population of China, and are proper genetic markers on chromosome Y.更多还原