包头地区汉族健康人群维生素D受体基因Tru 9 I多态性分析

目的了解包头地区汉族健康人群维生素D受体基因单核苷酸多态性位点分布特点。方法抽取包头地区汉族健康人400例,采用PCR-RFLP方法,检测维生素D受体基因第Ⅷ内含子末端的Tru 9I基因多态性分布。结果 VDR基因Tru9I有三种等位基因,TT、Tt、tt三种基因型在本研究人群中分布频率分别为44%、38%、18%。T等位基因占63%,t等位基因占37%。基因型频率分布符合Hardy-Weinberg平衡定律（P〉0.05）,具有群体代表性。结论包头地区汉族健康人群VDR基因Tru9I多态性的分布与国内外相关研究的差异可能是存在种族差异,同时环境因素也可能会造成同一种族的基因频率发生微小的变化。

Polymorphic analysis of vitamin D deceptor gene Tru 9 I in healthy people with Han nationality in Baotou

Objective To investigate the distributing characteristics of single nucleotide polymorphisms of vitamin D receptor gene（VDRG） in healthy people with Han nationality in Baotou City.Methods 400 healthy people with Han nationality in Baotou Area were selected.Their polymorphic distribution of gene Tru 9 I in the end of the Ⅷ intron in VDRG was tested by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）.Results There were three kinds of alleles in VDRG Tru 9 I,TT,Tt,and tt,whose distribution frequencies in these participants were 44%,38%,and 18% respectively.Allele T accounted for 63%,and the rest for allele t.The genotype frequency distribution in this study was in accordance with Hardy-Weinberg equilibrium law with a group representative（P 0.05）.Conclusion The difference between polymorphic distribution of VDRG Tru 9 I in healthy people with Han nationality in Baotou and the correlational researches at home and abroad is due to ethnic variation.Meanwhile,environmental factor can lead to a slight change in gene frequency in the same ethnic group.