云南汉族人群IAPP基因Ser20Gly突变与2型糖尿病的相关性研究  

Missense Mutation of Ser20Gly in Islet Amyloid Polypeptide Gene and Its Association with Type 2 Diabetes Mellitus in Yunnan Han Population

作　　者：蒋世钊[1] 李春[1] 吴斌[1] 李雪芹[1] 祁雁 李红[1] 

机构地区：[1]昆明医学院第一附属医院内分泌与代谢病科,云南昆明650032 [2]鹤庆县人民医院内科,云南大理671500

出　　处：《昆明医学院学报》2010年第6期38-41,共4页Journal of Kunming Medical College

摘　　要：目的探讨云南汉族人群中是否存在胰淀素(IAPP)基因突变以及该突变是否与2型糖尿病(T2DM)相关.方法无亲缘关系个体288例,其中2型糖尿病167例,非糖尿病(ND)121例.应用聚合酶链反应-限制性片段长度多态(PCR-RFLP)MspI酶解法筛查突变,部分进行DNA测序分析.结果 T2DM中发现1例IAPP基因Ser20Gly突变,ND中未发现该基因突变.DNA测序分析证实,突变位点为IAPP基因cD-NA中的nt582A-G点突变,该突变携带者为杂合子.在云南汉族人群中IAPPSer20Gly突变频率为0.6%,与ND相比,该突变频率无统计学差异.结论云南汉族2型糖尿病患者中存在IAPP基因Ser20Gly突变,未发现该基因突变与T2DM相关联.Objective To investigate the presence of the Ser 20 Gly mutation of islet amyloid polypeptide （IAPP） gene in Yunnan Han ethnic population and its association with type 2 diabetes （T2DM）.Methods 167 T2DMand 121 non-diabetes （ND） were enrolled,all of them were unrelated Han race and resident in Yunnan province.IAPP Ser20Gly mutation was examined by PCR-RFLP method.10% PCR products were randomly selected to perform direct DNA sequencing to confirm the results of PCR-RFLP.Results Ser 20 Gly heterozy-gotic mutation was found in one T2DM subjects,no mutation was observed in ND group.The frequency of IAPP Ser 20 Gly mutation was 0.6% in T2DM group and no significant difference was found between T2DM and ND group.Conclusion IAPP Ser20Gly mutation is present in Yunnan＇s Han population and this mutation is not related with T2DM.

关 键 词：2型糖尿病 胰淀素 基因突变 

分 类 号：R587.1[医药卫生—内分泌]