2型糖尿病CDKAL1基因rs7754840多态性与线粒体ND1基因突变的相关性研究

摘要

Objective To investigate the single nucleotide polymorphism ( SNP) of CDKAL1 gene rs7754840 in T2 DM, and its relationship with T2 DM and ND1 gene mutation of mitochondri-al DNA in Type 2 diabetes.Methods 34 healthy subjects , 80 T2 DM patients , including 38 pa-tients mitochondrial DNA ND1 gene mutations and 42 not mutations, were recruited.Using PCR-RFLP, we detected the rs7754840 (G>C) polymorphism in CDKAL1 gene, and the results were validated by DNA sequencing.The genotype frequency and allele frequency were compared among each groups by SPSS13.0.Results There were three genotypes at the site of rs 7754840 after PCR-RFLP: GG, GC and CC.Statistics analysis showed that the difference between the normal control group and T2 DM group was statistically significant (P<0.05), the difference among the normal group, the mitochondrial ND1 gene mutation group and native group was not statistically significant (P>0.05) .Conclusion There is a correlation between CDKAL1 rs7754840 polymorphism and T2 DM in Type 2 diabetes, but it’ s no correlation between CDKAL1 rs7754840 polymorphism and the mitochondrial ND1 gene mutation or not.%目的：研究CDKAL1基因rs7754840的单核苷酸多态性（ SNP），探讨其与2型糖尿病以及线粒体ND1基因突变的相关性。方法选取正常人34例， T2 DM患者80例作为研究对象（其中携带线粒体ND1基因突变患者38例），采用PCR-RFLP方法检测CDKAL1基因rs7754840（ G＞C）多态性，并测序验证；使用SPSS13.0统计软件比较分析各组间基因型频率和等位基因频率的相关性。结果 PCR-RFLP结果可见3种带型： GG型、 GC型和CC型。统计结果显示正常对照组和T2 DM组差异有统计学意义（ P＜0.05），正常组、线粒体ND1基因突变组和线粒体ND1基因未突变组差异无统计学意义（ P＞0.05）。结论 CDKAL1基因rs7754840多态性与T2 DM有相关性，但T2 DM患者CDKAL1基因rs7754840多态性与线粒体ND1基因是否突变无关。