育龄妇女叶酸代谢相关基因多态性分布研究

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.

Distribution of the folate gene polymorphism in women of childbearing age

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 .