亚甲基四氢叶酸还原酶基因多态性与2型糖尿病相关性研究(1)
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[摘要] 目的 研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性与2型糖尿病(T2DM)的关系。 方法 应用PCR-RFLP 方法检测91例2型糖尿病患者及124例健康对照者MTHFR基因 C677T多态位点基因型，并进行统计分析。结果 2型糖尿病组MTHFR基因TT纯合基因型频率为25.27%，CT杂合基因型频率为56.04%，T等位基因频率为53.29%，与健康对照组比较(29.84%、56.45%、58.06%)，差异均无统计学意义(P > 0.05)。 结论 MTHFR基因677位点多态性与2型糖尿病无相关关系。
[关键词] 2型糖尿病；亚甲基四氢叶酸还原酶；基因多态性
[中图分类号] R587.1 [文献标识码] C [文章编号] 1673-7210(2012)08(a)-0162-02
Correlation study between gene polymorphism of methylene tetrahydrofolate reductase and type 2 diabetes
MEI Qingbu CHEN Ping▲ ZHENG Lihong
Teaching and Research Section of Biological Genetic, Qiqihar Medical School, Heilongjiang Province, Qiqihar 161000, China
[Abstract] Objective To study the correlation between gene polymorphism of methylene tetrahydrofolate reductase (MTHFR) and type 2 diabetes (T2DM). Methods C677T polymorphism genotype of MTHFR in 91 cases of T2DM patients and 124 healthy controls were detected with PCR-RFLP method and were subjected to statistical analysis. Results TT homozygous genotype frequencies of the MTHFR gene in T2DM group was 25.27%, CT heterozygous genotype frequency was 56.04% and T allele frequency were 53.29% and the distribution were not significantly different form those in the healthy control group (29.84%, 56.45%, 58.06% respectively) (P > 0.05). Conclusion 677 gene polymorphism of MTHFR is not related to T2DM.
[Key words] Type 2 diabetes; Methylene tetrahydrofolate reductase; Gene polymorphism
亚甲基四氢叶酸还原酶(MTHFR)能够催化体内5，10-亚甲基四氢叶酸还原为5-甲基四氢叶酸，作为调节甲硫氨酸-叶酸代谢的关键酶参与DNA的甲基化、DNA合成及修复。MTHFR 基因定位于染色体1p36.3，其C677T点突变是最常见的突变类型，突变后丙氨酸被缬氨酸替代从而导致酶活性降低，造成同型半胱氨酸复甲基化紊乱，引起高半胱氨酸血症、高半胱氨酸尿症和血浆低甲硫氨酸 ......
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