山西地区育龄妇女叶酸代谢相关基因的多态性分析  

Study of polymorphisms of genes related to folic acid metabolism among women of child-bearing age from Shanxi

作　　者：梁娜[1] 邓洋[1] 周永安[2] 

机构地区：[1]太原市妇幼保健院遗传实验室,030012 [2]山西医科大学第二医院输血科,太原030001

出　　处：《中华医学遗传学杂志》2016年第6期801-805,共5页Chinese Journal of Medical Genetics

摘　　要：目的分析山西地区育龄妇女的叶酸代谢能力相关基因的多态性。方法采集1070例育龄妇女的口腔黏膜上皮细胞，检测其5，10-亚甲基四氢叶酸还原酶（methylene tetrahydrofolate reductase,，MTHFR）基因的C667T、A1298C位点、甲硫氨酸合酶还原酶（methionine synthase reductase,MTRR）基因的A66G位点、以及还原叶酸载体1（solute carrier family 19, member 1,SLC19A1 or RFC1 ）基因的A80G位点的序列，并与我国其他地区人群的基因型和等位基因频率分布进行比较，判断其叶酸代谢能力的强弱，并进行叶酸补充风险分级。结果MTHFR基因C667T位点的野生型（CC）、杂合突变型（CT）、纯合突变型（TT）分别占20．5％、50．3％、29．2％，突变等位基因T的频率为54．4％；MTHFR基因A1298C位点的上述频率分别为68．7％、29．3％、2．0％，突变等位基因C的频率为16．6％；MTRRA66G位点的分别为51．5％、41．8％、6．7％，突变等位基因G的频率为27．6％；SLC19AI（RFCI）ASOG位点分别为29．2％、48．0％、22．8％，突变等位基因G的频率为46．8％。与我国其他地区人群的基因多态性分布相比，山西地区人群MTRRA66G、SLC19A1A80G位点的基因型分布与等位基因频率具有明显的差异（P＜0．05），而MTHFRC667T、MTHFRA1298C则无明显差异。山西地区人群叶酸代谢能力差风险较低者占45．0％，略高风险与较高风险者分别占41．0％、13．5％，风险很高者占0．5％。结论我国不同地区人群叶酸代谢相关基因的多态性分布存在明显的差异。山西地区超过50％以上的育龄妇女携带高风险基因。基于叶酸代谢基因多态性的检测结果指导和监测孕期叶酸补充，将是进～步减少出生缺陷的重要手段。Objective To analyze polymorphisms of genes related to folic acid metabolism among women of child-bearing age from Shanxi. Methods Buceal smears were collected from 1070 women of child- bearing age with cotton swabs. Sequences of MTHFR C667T and A1298C, MTRR A66G, and SLC19A1 A80G were determined by DNA sequencing. The results were compared with data from other regions of China. Results For MTHFR C667T, the wild type homozygote, heterozygous mutants, and homozygous mutants have respectively accounted for 20. 5%, 50. 3%, and 29. 2% of the study group, with the frequency of the mutant T allele being 54. 4%. For MTHFR A1298C, these were 68. 7%, 29. 3%, and 2.0%, with the frequency of mutant C allele being 16.6%. For MTRR A66G, the above frequencies were 51.5%, 41.8 %, and 6.7 %, with the frequency of the mutant G allele being 27.6 %. For SLC19A1 A80G, these were 29.2%, 48.0%, 22.8%, with the frequency of mutation G allele being 46.8%. Compared with other regions of China, women of child-bearing age from Shanxi has shown a significant difference in allelic distribution of MTRR A66G and SLC19A1 A80G （P〈0.05）. Conclusion The polymorphisms of genes related to folic acid metabolism showed significant regional difference. Over half of women from Shanxi have carried high-risk alleles for folic acid insufficiency and should have individualized folic acid supplement.

关 键 词：育龄妇女 叶酸 5 10-亚甲基四氢叶酸还原酶基因 甲硫氨酸合酶还原酶基因 还原叶酸载体1基因 单核苷酸多态性 

分 类 号：R[医药卫生]