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.
出处
《中国地方病学杂志》
CAS
CSCD
北大核心
2012年第1期16-19,共4页
Chinese Jouranl of Endemiology
基金
国家自然科学基金（81072251）
关键词
谷胱甘肽硫转移酶
基因多态性
遗传学
群体
Glutathione S-transferases class Omega-1
Genetic polymorphism
Genetics population
