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Pax6基因的Arg67Arg与Thr166Thr突变致胰岛素分泌减少所致糖代谢异常与早发2型糖尿病的相关性研究

来自:中国糖尿病杂志  编辑:姚庆春 赵秀云|点击数:|2016-03-04

 

      摘要  目的  探讨Pax6基因的Arg67ArgThr166Thr突变致早发T2DM的临床特点。  方法  选取早发T2DM患者112例(T2DM组)和OGTT正常者98名(Con组),采用聚合酶链式反应(PCR)测定两组Pax6基因突变/变异情况,比较FPG2 hPGFIns等指标。  结果  T2DM组检出Pax6基因外显子6Arg67Arg(AG)突变,突变型等位基因G和野生型A基因频率分别为2.23%97.77%,未检出Pax6基因外显子7Thr166ThrTC)突变;Con组未检测到Pax6基因Arg67ArgThr166Thr突变;AG基因型患者FPG2 hPG水平高于AA基因型患者,FC-P2 hC-PFIns2 hIns水平低于AA基因型患者(P0.05)。 结论  Pax6基因的Arg67ArgThr166Thr突变可能不是人群早发T2DM的易感标志,但Arg67Arg突变可加剧胰岛素分泌的减少。

 【关键词 Pax6基因;早发2型糖尿病;Arg67ArgThr166Thr;突变

 The correlation between Pax6 gene Arg67Arg and Thr166Thr mutations  andearly-onset type 2 diabetes mellitus

      Abstract  Objective  To study the clinical features of early onset type 2 diabetes mellitus (T2DM) induced by Pax6 gene Arg67Arg and Thr166Thr mutations.  Methods  112 cases of early onset T2DM (T2DM group) and 98 healthy controls (Con group)were selected and genotyped Pax6 gene mutations by polymerase chain reaction (PCR). The levels of FPG, 2 hPG, FIns and other indicators were measured.  Results  In T2DM group, Arg67Arg (AG) mutations in Pax6 gene exon 6 were detected with 2.23%  G and 97.77% wild type A alleles frequency. No Thr166Thr (TC) mutation was found in Pax6 gene exon 7. In Con group, no Arg67Arg and Thr166Thr mutation was detected. Compared with AA genotype patients, FPG and 2hPG levels in patients with AG genotype were higher, and FC-P, 2 hC-P, FIns and 2 hIns levels were significantly lower (P0.05).  Conclusion  Pax6 gene Arg67Arg and Thr166Thr mutations may not be markers for early-onset T2DM susceptibility, but Arg67Arg mutation can exacerbate insulin secretion.

Key words  Pax6 gene; early-onset type 2 diabetes; Arg67Arg; Thr166Thr; mutation

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