长治人群MTHFR C677T基因多态性分布与血浆Hcy水平  

Study on polymorphism of methylene-tetrahydrofolate reductase gene and concentration of homocysteine in Changzhi population

作　　者：陈云霞[1] 程红兵[1] 武延隽[1] 张雄鹰[1] 

机构地区：[1]长治医学院微生物学教研室,长治046000

出　　处：《山西医科大学学报》2013年第2期130-133,共4页Journal of Shanxi Medical University

基　　金：山西高校科技研究开发基金资助项目(20091134)

摘　　要：目的对N5,N10-亚甲基四氢叶酸还原酶(MTHFR)的MTHFR C677T基因位点的基因多态性和血浆同型半胱氨酸(HCY)水平进行分析,了解其在长治地区人群中的分布情况。方法采用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)对192例健康人的血标本进行MTHFR C677T基因多态性分析;采用酶联免疫吸附法进行血浆HCY水平测定。结果长治地区健康人群中MTHFR C677T基因的CC、CT和TT基因型频率分别为16.67%,50.52%和32.81%,C、T等位基因频率分别为41.93%和58.07%。其中男性人群MTHFR C677T基因的CC、CT和TT基因型频率分别为20.21%,53.19%和26.60%,女性人群则分别为13.26%,47.96%和38.78%,男、女性人群基因型频率差异无显著性(P>0.05);男、女性人群C等位基因频率分别为46.81%和37.24%,T等位基因频率分别为53.19%和62.76%,男、女性人群C、T等位基因频率无显著性差异(P>0.05)。MTHFR C677T基因型频率在长治地区男性人群、女性人群、总人群中均符合Hardy-Weinberg平衡。人群中血浆Hcy水平为(9.1±4.0)μmol/L;男、女性人群血浆HCY水平经t检验无显著性差异;总人群MTHFR C677T位点各基因型间,血浆HCY水平亦无显著性差异。结论 MTHFR C677T基因多态性在长治地区人群中的分布符合Hardy-Weinberg平衡,在男、女性人群中的分布无显著性差异;长治地区健康人群血浆HCY水平为(9.1±4.0)μmol/L,男、女性人群血浆HCY水平无显著性差异。本试验数据可为MTHFR基因突变与同型半胱氨酸代谢相关疾病病因研究提供遗传学数据。Objective To investigate the genotype and allele frequency of methylene-tetrahydrofolate reductase（MTHFR）gene,and to detect the concentration of homocysteine in Changzhi population.Methods The genotype of MTHFR C677T was analyzed by polymerase chain reaction-restriction fragment polymorphism（PCR-RFLP）in 192 blood samples from the healthy subjects,and the concentration of homocysteine was detected by enzyme-linked immunosorbent assay（ELSIA）.Results The frequencies of CC genotype,CT genotype and TT genotype in MTHFR C677T were 20.21%,53.19% and 26.60% in male,and 13.26%,47.96% and 38.78% in female,and there was no significant difference between male and female in frequency of MTHFR C677T genotypes（P0.05）.The allele frequency of C was 46.81% for the male and 37.24% for the female,the allele frequency of T was 53.19% for the male and 62.76% for the female,and there was no significant difference between male and female in the allele frequency of C and T（P0.05）.The genotypic frequency of MTHFR C677T was not deviated from Hardy-Weinberg equilibrium.There was no difference in the homocysteine levels among the different genotypes of MTHFR C677T（P0.05）. Conclusion The genotypic frequency of MTHFR C677T is not deviated from Hardy-Weinberg equilibrium,and has no difference between male and female.The homocysteine level is（9.1±4.0）μmol/L in healthy population in Changzhi,and has no difference between male and female.The genetic epidemiological data are useful for the study on etiological hypothesis between MTHFR and diseases related to homocysteine metabolism.

关 键 词：N5 N10-亚甲基四氢叶酸还原酶 聚合酶链反应-限制性片段长度多态性法 基因多态性 同型半胱氨酸 

分 类 号：R394[医药卫生—医学遗传学]