台州地区1376例育龄女性MTHFR基因多态性分析

Analysis of MTHFR gene polymorphism in 1376 women of childbearing age in Taizhou area

目的分析台州地区育龄女性亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)的基因多态性及其地区遗传分布特征,为临床医生指导育龄妇女制定个体化叶酸补充方案提供科学依据。方法采用荧光定量PCR技术,检测孕前或孕期检查的1376例育龄女性的MTHFR C677T和A1298C基因位点多态性,将结果和国内多地区相关研究报道进行比较分析。结果MTHFR C677T位点的CC,CT和TT基因型频率分别为41.6%,43.9%和14.5%;MTHFR A1298C基因位点的AA,AC和CC基因型频率分别为63.8%,31.4%和4.8%;MTHFR C677T位点的等位基因C、T的频率分别为63.6%、36.4%,MTHFR A1298C位点的等位基因A、C的频率分别为79.5%、20.5%。MTHFR C677T和A1298C位点的基因型频率和等位基因频率与已报道的辽源、廊坊、烟台、南宁、琼海、新乡等地比较,差异均具有统计学意义(P<0.05)。本地区育龄女性MTHFR基因以基因型(MTHFR C677T/A1298C)CT/AA为主,而MTHFR正常代谢型只占36.85%。结论台州地区育龄女性MTHFR基因多态性分布具有地域特异性,MTHFR基因突变检测可指导该地区育龄妇女合理补充叶酸。

Objective To analyze the genetic polymorphism and regional genetic distribution of methylenetetrahydrofolate reductase(MTHFR)in women of childbearing age in Taizhou area,and to provide scientific basis for clinicians to guide women of childbearing age to formulate individualized folic acid supplementation programs.Methods Fluorescent quantitative PCR was used to detect MTHFR C677T and A1298C gene polymorphisms in 1376 women of childbearing age who underwent pre-pregnancy or pregnancy examinations,and the results were analyzed and compared with related research reports in many regions in China.Results The genotypic frequencies of CC,CT and TT at the MTHFR C677T locus were 41.6%,43.9%and 14.5%,respectively;the genotypic frequencies of AA,AC and CC at the MTHFR A1298C locus were 63.8%,31.4%and 4.8%,respectively;the frequencies of alleles C and T at the MTHFR C677T locus were 63.6%and 36.4%,respectively;and the frequencies of alleles A and C at the MTHFR A1298C locus were 79.5%and 20.5%,respectively.The genotypic frequencies and allele frequencies of the MTHFR C677T and A1298C loci were different from those reported in Liaoyuan,Langfang,Yantai,Nanning,Qionghai,Xinxiang and other places,and the differences were statistically significant(P<0.05).In this area,the main genotype of MTHFR gene in women of childbearing age was(MTHFR C677T/A1298C)CT/AA,while the MTHFR normal metabolic type only accounted for 36.85%.Conclusions The distribution of MTHFR gene polymorphism in women of childbearing age in Taizhou area is regionally specific,and the detection of MTHFR gene mutation can guide women of childbearing age in this area to take supplementary folic acid reasonably.