论文部分内容阅读
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。
OBJECTIVE: To study the genetic polymorphisms of three short tandem repeat (STR) loci in DYS19, DYS390 and DYS393 of Han population in Tianjin and to obtain the genetic data of related groups in this area. Abnormal diagnosis and prenatal diagnosis provide experimental evidence. Methods: Three STR loci of 200 male Y chromosomes in unrelated Tianjin area were amplified by quantitative fluorescent PCR (QF-PCR). The amplified products were detected by capillary electrophoresis and analyzed by ABI3730 automatic DNA genetic analyzer. Three loci were selected two fragments were sequenced, named. Gene frequency was calculated at each locus, and gene diversity (GD) and haplotype diversity (HD) were calculated. Results: There were 5, 6 and 6 alleles detected in the three STR loci of DYS19, DYS390 and DYS393 respectively. The frequencies of the three STR loci were 0.070 0-0.377 5,0.005 0-0.390 0 and 0.005 0-0.540 0 respectively. The GD values were 0.743, 0.731 and 0.634, respectively, and the HD was 0.706 8. CONCLUSION: The three Y-STR loci in Tianjin Han population have high polymorphism and are good genetic markers of Y chromosome.