中国汉族人群亚甲基四氢叶酸还原酶基因多态性与2型糖尿病的相关性研究  

Correlation between Single Nucleotide Polymorphisms in Methylenetetrahydrofolate Reductase Gene and Type 2 Diabetes Mellitus in Chinese Han Nationality

作　　者：张阳东[1] 时磊[1] 于敏[1] 翁代慧[1] 刘晨[1] 李晓宁[1] 

机构地区：[1]中国人民解放军第二炮兵总医院检验科,北京100088

出　　处：《现代检验医学杂志》2010年第1期14-16,共3页Journal of Modern Laboratory Medicine

摘　　要：目的观察中国汉族人群亚甲基四氢叶酸还原酶基因的单核苷酸多态性与2型糖尿病的相关性。方法提取受检者外周血有核细胞DNA，应用荧光标记单碱基延伸分型技术及寡核苷酸微阵列芯片杂交技术检测亚甲基四氢叶酸还原酶基因的3个标签单核苷酸多态性rs6541003，rs1801133和rs9651118。结果2型糖尿病组rs6541003的AG基因型频率（0．202VS0．309）和G等住基因频率（0．135VS0．211）明显低于健康对照组（P〈0．05）。两组rs1801133和rs9651118的基因型频率及等位基因频率差异无统计学意义（P〉0．05）。由3个标签单核苷酸多态性构建的单倍型频率在两组间差异无统计学意义（P〉0．05）。结论中国汉族人群亚甲基四氢叶酸还原酶基因rs6541003多态性与2型糖尿病具有相关性。Objective To investigate the association between single nucleotide polymorphisms （SNP） in methylenetetrahydrofolate reductase （MTHFR） gene and type 2 diabetes mellitus （T2DM） in Chinese Han nationality. Methods DNA samples of peripheral blood white cells were extracted from patients with type 2 diabetes mellitus and healthy individuals. Tag SNPs of rs6541003,rs1801133 and rs9651118 mutations in MTHFR gene were analyzed with allele-specific fluorogenic oligonucleotide probes in an assay combining the polymerase chain reaction （PCR） and hybridization. Results The AG genotype （0. 202 vs 0. 309） and G alleles （0. 135 vs 0. 211） frequencies of rs6541003 of type 2 diabetes mellitus group were obviously lower than that of control group （P＇~ 0. 05）. The frequencies of the genotypes and alleles of rs1801133 and rs9651118 were not significantly different in both groups （all P〉0. 05）. The haplotypes of rs6541003, rs1801133 and rs9651118 were constructed and the results showed that the frequencies of haplotypes were not different in both groups （P〉0. 05）. Conclusion rs6541003 mutations in MTHFR gene might be an inherit risk factors for T2DM in Chinese Han nationality.

关 键 词：亚甲基四氢叶酸还原酶 2型糖尿病 单核苷酸多态性 单倍型 

分 类 号：Q786[生物学—分子生物学] R587.1[医药卫生—内分泌]