成都汉族群体五个短串联重复序列基因频率及其种属特异性研究

目的对成都汉族群体5个短串联重复序列（short tandem repeat，STR）基因座的等位基因频率及其种属特异性进行研究，探讨其在法医学中的应用价值。方法用PCR扩增、非变性聚丙烯酰胺凝胶电泳、硝酸银染色方法，对100名成都汉族无血缘关系健康个体的5个STR基因座的等位基因频率及其种属特异性进行研究。结果D18S979、D11S2014、D18S548、D1S1667和GATA164F07在成都汉族群体中等位基因个数分别为6、5、5、7、6；基因型个数分别为12、11、13、19、14；基因型分布符合Hardy-Weinberg平衡定律。通过种属特异性分析发现5个STR基因座中，猴在D18S979、D11S2014和D1S1667基因座均检测出扩增产物，但未在人类基因座分型区内；D18S979位点人类分型区内可检测到牛、狗、鳝鱼有扩增产物，猪、鸭、鼠、兔有微弱扩增产物；D18S548位点人类分型区内只检测到牛有微弱扩增产物；D1S1667位点人类分型区内检测到狗、羊、鳝鱼有扩增产物；GATA164F07位点人类分型区内只检测到狗有微弱扩增产物；泥鳅、鸡、豚鼠在5个基因座均未检测到扩增产物。结论5个短串联重复序列中D18S979、D18S548、D1S1667和GATA164F07在成都汉族群体中具有较好的遗传多态性，D11S2014、D18S548和GATA164F07具有较好的种属特异性，在法医学个人识别和亲子鉴定中有应用价值。

Allele frequencies and species specificity of five short tandem repeat loci of Chinese Han population in Chengdu

Objective To obtain the data in polymorphism distribution of the five short tandem repeat(STR)loci:D18S979,D11S2014,D18S548,D1S1667 and GATA164F07 of Chinese Han population in Chengdu,and to evaluate their usefulness in the field of species specificity in forensic science.Methods PCR,polyacrylamide gel electrophoresis(PAGE)and silver staining techniques were used to analyze the DNA samples from 100 unrelated individuals of Chinese Han ethnic group in Chengdu.Twelve different animals:monkey,pig,dog,bull,goat,chicken,duck,eel,mudfish,rabbit,guinea pig and mouse were selected as controls in this study for evaluating the species specificity of the five STR loci.Results Six alleles and twelve genotypes were observed in D18S979.Five alleles and eleven genotypes were observed in D11S2014.Five alleles and thirteen genotypes were observed in D18S548.Seven alleles and nineteen genotypes were observed in D1S1667.Six alleles and fourteen genotypes were observed in GATA164F07.The genotype distributions of the five loci were analyzed by some related software and no deviation from the Hardy-Weinberg equilibrium was observed.Evaluated by way of using different animals as controls,monkey had amplification products at the extra-typing field of D18S979,D11S2014 and D1S1667.Bull,dog and eel had amplification product at typing field of D18S979,and pig,duck,mouse and rabbit had weak product.Bull had weak product at the typing field of D18S548.Dog,goat and eel had product at the typing field of D1S1667.Dog had weak product at the typing field of GATA164F07.Mudfish,chicken and guinea pig had no amplification product at the five loci.Conclusion These data indicate that D18S979,D18S548,D1S1667 and GATA164F07 are highly polymorphic and D11S2014,D18S548 and GATA164F07 can play a key role in species identification.