贵州荔波封闭人群MTHFR基因多态性研究分析

人类学学报 ›› 2005, Vol. 24 ›› Issue (04): 315-318.

贵州荔波封闭人群MTHFR基因多态性研究分析

肖雁;单可人;李毅;赵艳;官志忠;任锡麟

出版日期:2005-12-15 发布日期:2005-12-15

5, 10-methylenetetrahydrofolate reductase polymorphism in three nationalities in Guizhou Province

Polymerase chain reaction; Restriction fragment length polymorphism; Polymorphisms; Methylenetetrahydrofolate reductase

Online:2005-12-15 Published:2005-12-15

摘要/Abstract

摘要： 目的对贵州汉族、布依族亚甲基四氢叶酸还原酶(Methylenetetrahydrofolate Reductase,MTHFR)基因多态性进行研究,为贵州少数民族基因多态性数据库的建立提供相关数据。方法应用聚合酶链式反应及限制性片段长度多态性检测贵州荔波汉族90例、布依族119例MTHFR基因两个单核苷酸(677及1 298位)多态位点的基因频率及基因型频率。结果汉族、布依族MTHFR 677位T等位基因的分布频率分别是22.8%,16.1%,χ2=1.561,P>0.1;MTHFR 1298位C等位基因的分布频率分别是28.9%,39.1%,χ2=2.075,P>0.1;677CT/1298AC双杂合子的分布频率分别是16.66%,22.7%。结论MTHFRC 677T和A1298C多态性在中国南方和北方人群存在群体差异;贵州汉族与布依族此两位点无显著性差异。贵州荔波布依族MTHFR 1298位有较高的C等位基因频率。

关键词: 聚合酶链式反应;限制性片段长度多态性;亚甲基四氢叶酸还原酶;基因多态性

Abstract: Objective To study the genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) among the Han and Bouyei populations in Guizhou and to provide genetic data for the establishment of the genetic polymorphism bank of Guizhou minorities. Methods The technique of polymerase chain reaction and restriction fragment length polymorphism ( PCR-RFLP) is used to detect the gene frequency and genotype frequency of two mononucleotide sites ( 677 and 1298) of MTHFR among the Han population in Libo County, and the Bouyei population in Libo County. Results At mononucleotide site 677, Tallele frequencies are 22.8% , 16.1%, x2 = 1.561, P > 0.1 respectively, for theHan and Bouyei. At mononucleotide site 1 298, C allele frequencies are 28.9%, 39.1%, x2 = 2.075, P > 0.1 respectively, for Han, Bouyei. The frequencies with combined heterozygote of 677CT/1298AC are 16.66% and 22.7%, respectively for the two populations. Conclusion The polymorphisms of the two mononucleotide sites ( 677 and 1298) of MTHFR are diverse between northern and southern populations of China, but they are not significantly different between the Han and Bouyei in two site. The C allele frequencies at site 1 298 of the Bouyei in Libo County are higher.

Key words: Polymerase chain reaction; Restriction fragment length polymorphism; Polymorphisms; Methylenetetrahydrofolate reductase

肖雁;单可人;李毅;赵艳;官志忠;任锡麟. 贵州荔波封闭人群MTHFR基因多态性研究分析[J]. 人类学学报, 2005, 24(04): 315-318.

Polymerase chain reaction; Restriction fragment length polymorphism; Polymorphisms; Methylenetetrahydrofolate reductase. 5, 10-methylenetetrahydrofolate reductase polymorphism in three nationalities in Guizhou Province[J]. Acta Anthropologica Sinica, 2005, 24(04): 315-318.