藏族X染色体10个STR位点的遗传多态性

Genetic polymorphisms of 10 X chromosome STR loci in a Chinese Tibetan population

目的研究西藏藏族X染色体上的10个短串联重复序列（DXS7423，DXS8378，DXS6799，DXS7424，DXS7130，DXS7132，DXS6789，DXSl01，DXS6804，DXS7133）的基因及基因型频率分布。方法随机抽取101名西藏藏族无关个体静脉血，提取DNA，PCR扩增，变性聚丙烯酰胺凝胶电泳，银染检测结果。结果DXS7423，DXS8378，DXS6799，DXS7424，DXS7130，DXS7132，DXS6789，DXS101，DXS6804，DXS7133分别检出5种、5种、5种、9种、7种、7种、11种、9种、5种和4种等位基因；基因频率分别分布在0．0172～0．5610、0．0179～0．5595、0．0122～0．5614、0．0122—0．4024、0．0172—0．4828、0．0116～0．4035、0．0119～0．2857、0．0119-0．3774、0．0351-0．0．3929、0．0116～0．6786之间，此10个位点女性的基因型频率分布均符合Hardy-Weinberg平衡。结论此10个X染色体STR位点有较高的个体识别率，在个体识别和女孩亲权鉴定中有较高应用价值．对疾病相关研究有重要意义。

Objective To investigate the alleles and genotypes frequency of 10 short tandem repeat （SIR） loci on the X chromosome（ DXS7423, DXS8378, DXS6799, DX57424, DXST130, DXS7132, DXS6789, DXS101, DXS6804, DXST133）of Tibetan individuals living in Xizang Autonomous Region, Southwest China. Methods The 10 X-ehromesomal STR loci were analyzed with PCR, followed by polyacylamide gel electrophoresis and silver staining. Results Among unrelated Tibetan individuals, the numbers of alleles in the 10 X-STR loci （DXS7423, DXS8378, DXS6799, DXS7424,DXS7130,DXS7132,DXS6789,DXS101, DXS6804,DXS7133）were 5, 5,5,9,7,7,11,9,5 and 4, respectively. The genotype frequencies in females were in accordance with Hardy-Weinberg equilibrium. Conclusion The 10 X-chromosomal STRs loci are appropriate for individual identification, for paternity testing involving a female child, and for studies on related disease.