影响亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性的因素分析

Analysis of factors impacting the gene polymorphism of methylene tetrahydrofolate reductase and methionine synthase reductase

目的了解影响女性亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C位点和甲硫氨酸合成酶还原酶(MTRR)A66G位点基因多态性的因素。方法采用横断面调查研究方法,以湖北省内1 902例女性为对象,采集口腔黏膜上皮细胞,提取DNA,用实时荧光定量PCR技术检测MTHFR和MTRR基因,统计分析不同民族MTHFR和MTRR基因多态性的差异,与其他地区人群的MTHFR和MTRR基因多态性进行比较,并分析不同位点基因多态性之间的关联关系。结果 (1)湖北省汉族女性和少数民族女性在MTHFR C677T和MTRR基因多态性构成差异无统计学意义(P>0.05),而MTHFR A1298C位点基因多态性构成差异有统计学意义(P<0.05)。(2)MTHFR C677T位点的纯合突变基因型TT的频率从南到北呈上升趋势,MTHFR A1298C位点的纯合突变基因型CC的频率从南到北呈下降趋势,而MTRR A66G位点基因多态性在不同地区差异不大。(3)MTHFR C677T位点的纯合突变基因型TT的频率在A1298C位点的正常型、杂合型、纯合突变型中分别为15.9%、0.1%、0.0%,差异有统计学意义(P<0.01);MTHFR C677T位点的纯合突变基因型TT的频率在MTRR A66G位点的正常型、杂合型、纯合突变型中分别为9.4%、5.9%、0.7%,差异无统计学意义(P>0.05)。结论 MTHFR A1298C位点基因多态分布存在民族差异;而MTRR C677T、A1298C位点基因多态分布存在地区差异;同一基因不同位点的基因多态性有关联。

] Objective To investigate the factors which affect the gene polymorphism of C677T and A1298C in methylene tetrahydrofolate reductase（MTHFR）and A66G in methionine synthase reductase（MTRR）. Methods A cross-sectional survey research method was used. A total 1 902 women in Hubei province were recruited and collected oral mucosal epithelial cells. The DNA of ceils was extracted. The MTHFR and MTRR gene polymorphisms were de- tected by real-time fluorescence quantitative polymerase chain reaction. The MTHFR and MTRR gene polymor- phisms were analyzed statistically among different ethnic women. And their MTHFR and MTRR gene polymor- phisms were compared with other provinces. It was analyzed whether there was relationship between the different gene polymorphism. Results （1） There was not statistically significant difference in MTHFR C677T and MTRR gene polymorphisms between the Han and national minority women in Hubei Province（P〉0.05）, but there was significant difference in MTHFR A1298C （P〈0. 05）. （2）The frequency of the mutant homozygous genotype TT of MTHFR C677T sites was upward trend from south to north. However, the frequency of the mutant homozygous gen-otype CC of MTHFR A1298C sites was downward trend from south to north. There wasn＇t difference in MTRR A66G gene polymorphism in the different province. （3）The frequency of the homozygous mutant genotype TT of MTHFR C677T in A1298C site of normal type, heterozygous and homozygous mutant was 15.9%, 0.1% and 0.0 %, respectively. There was very significant difference（P〈0.01）. The frequency of the homozygous mutant genotype TT of MTHFR C677T in MTRR A66G site of normal-type,heterozygous and homozygous mutant was 9.4% ,5.9% and 0.7%, respectively. There was no statistical difference （P〉0. 05）. Conclusion Here is significant difference in MTHFR A1298C gene polymorphism and MTHFR C677T,A1298C site gene polymorphism distribution in different areas. Because of association in different sites of gene polymorphism of the different gene.