育龄妇女叶酸代谢相关基因多态性分布研究

Distribution of the folate gene polymorphism in women of childbearing age

目的了解育龄妇女叶酸代谢相关基因多态性的分布状况,利用基因检测技术筛查出叶酸利用能力差的高风险人群,为育龄妇女提供科学合理的叶酸补充方案。方法选取144例育龄妇女作为研究对象,通过DNA提取、PCR扩增、PCR产物基因测序等分子生物学技术对亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)等叶酸代谢相关基因进行单核苷酸多态性(Single Nucleotide Polymorphisms,SNP)位点的检测。结果 MTHFR677位点CC、CT、TT基因型频率分别为21.5%、40.3%、38.2%;MTHFR 1298位点AA、AC、CC基因型的频率分别为75.0%、22.2%、2.8%;MTRR66位点AA、AG、GG基因型频率分别为63.2%、31.3%、5.6%。结论通过对MTHFR基因和MTRR基因相关位点的检测,可筛查出叶酸利用能力差的高风险人群,为其合理增补叶酸提供科学依据。

Objective To investigate the distribution of the folate gene polymorphism in women of childbearing age ,and to screen out high-risk groups with poor ability to use folic acid by genetic detection technology to provide scientific and reasonable folic acid supple -mentation programs for women of childbearing age .Methods One hundred and forty-four cases of childbearing age women were select -ed for the research.The Single Nucleotide Polymorphisms （SNP） loci of genes related to the folate metabolism such as methylenetetra -hydrofolate reductase （MTHFR）,methionine synthase reductase （MTRR） were detected by some molecular biological techniques in -cluding DNA extraction,PCR amplification and gene sequencing of PCR amplification product .Results The genotype frequencies of CC,CT and TT at MTHFR 677 loci were 21.5%,40.3% and 38.2% respectively.The genotype frequencies of AA ,AC and CC at MTHFR 1298 loci were 75.0%,22.2% and 2.8% respectively.The genotype frequencies of AA,AG and GG at MTRR 66 loci were 63.2%,31.3% and 5.6% respectively.Conclusions By the detections of gene loci of MTHFR and MTRR ,high-risk groups with poor ability to use folic acid can be screened out to provide scientific basis for the supplement of folic acid .