我国16个人群谷胱甘肽硫转移酶GSTO1基因Ala140Asp位点的多态分布特征

摘要

目的 研究谷胱甘肽硫转移酶GSTO1基因Ala140Asp位点多态性在我国16个人群的分布特征.方法 1369个DNA样本来源于人类基因组计划——中国少数民族遗传资源库建立和保存项目,采用PCR-限制性片断长度多态性方法(PCR-RFLP)检测GSTO1基因Ala140Asp位点Ala/Ala(C/C)、Ala/Asp (C/A)、Asp/Asp (A/A)的基因型分布；采用分子方差分析(AMOVA),通过估计等位基因或基因型之间的进化距离,进行民族、地域之间遗传变异的等级分析.结果 在1369个样本中,Ala/Ala (C/C)、Ala/Asp (C/A)、Asp/Asp(A/A)基因型各检出979、365、25个,分别占总样本的71.51％、26.66％和1.83％；总体样本Ala140Asp位点突变型等位基因A频率为15.16％[ (365+ 50)/( 1369×2)].AMOVA分析结果表明,GSTO1基因Ala140Asp遗传变异在我国14个民族之间比较差异有统计学意义(P＜0.05)；南方与北方人群之间的遗传变异比较差异有统计学意义(P＜0.05).结论 GSTO1基因Ala140Asp位点突变型等位基因频率在我国不同地区和人群中存在较大差别.%Objective To investigate gene polymorphisms and distribution features of glutathione Stransferase Omega-1 (GSTO 1 ) gene in Ala 140Asp site in 16 Chinese populations.Methods A total of 1369 samples were from the human genome project(HGP)-the establishment and preservation program of Chinese minority genetic resources.The phenotypes of Ala/Ala (C/C),Ala/Asp (C/A),and Asp/Asp (A/A) of GSTO1 Ala140Asp were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).With analysis of molecular variance(AMOVA),the genetic variation levels among nations and regions were analyzed by estimating the evolutionary distance of alleles or genotypes.Results Of the 1369 individuals analyzed,979 (71.51％) were carriers of the wild homozygous allele Ala/Ala(C/C),365 (26.66％) were heterozygotes Ala/Asp(C/A) and 25 (1.83％) were mutant homozygotes Asp/Asp(A/A),with an overall frequency of the GSTO 1 mutant allele A 15.16％ [ (365 +50)/( 1369 × 2)].AMOVA analysis showed that the difference was statistically significant(P ＜ 0.05) of genetic variations of GSTO1 gene Ala140Asp among the 14 ethnic groups,and was significant between the northem and southern populations (P ＜ 0.05 ).Conclusion In different regions and populations the GSTO1Ala140Asp mutant allele frequencies are different.