珞巴族群体8个X染色体短串联重复序列位点的遗传多态性

目的调查西藏珞巴族人群8个位于X染色体上的短串联重复序列DXS7133、XS6789、DXS6804、DXS8378、DXSl01、DXS7424、DXS7132和HPRTB的等位基因及基因型频率分布。方法用聚合酶链反应、变性聚丙烯酰胺凝胶电泳和银染的方法检测96名健康珞巴族无关个体的X染色体8个STR位点基因多态性。结果DXS7133、DXS6789、DXS6804、DXS8378、DXSl01、DXS7424、DXS7132和HPRTB分别检出5种、8种、7种、5种、8种、8种、8种和5种等位基因；基因型频率分别分布在0．0040～0．4800、0．0076～0．3214、0．0078～0．3359、0．0076～0．5606、0．0154～0．3615、0．0076～0．3214、0．0149～0．2910、0．0408～0．3980之间，此8个位点女性的基因型频率分布均符合Hardy-Weinberg平衡。结论中国珞巴族X染色体8个短串联重复序列基因座群体遗传数据资料，可用于法庭科学个体识别、亲子鉴定、疾病相关研究及人类学研究。

Genetic polymorphism analysis of 8 short tandem repeat loci on the X chromosome in Luoba population of China

Objective To investigate the alleles and genotype frequency of 8 short tandem repeat (STR) loci (DXS6804, DXS8378,DXS7132, DXS7133,DXS6789,DXS101,HPRTB and DXS7423) on the X chromosome in Luoba ethnic group of China. Methods The eight X chromosome STR (X-STR) loci were analyzed by polymerase chain reaction (PCR) followed by polyacylamide gel electrophoresis and silver stain. Results Among 96 unrelated Luoba individuals,the numbers of alleles in the 8 X-STR loci(DXS7133,DXS6789,DXS6804,DXS8378,DXS101,DXS7424,DXS7132 and HPRTB)were 5,8,7,5,8,8,8 and 5,respectively. The genotype frequencies in females were in accordance with Hardy-Weinberg equilibrium. Conclusion The eight X-STR loci are appropriate for individual identification, paternity testing involving a female child and studies on related diseases.