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40岁以下发病的糖尿病患者的临床特征及胰淀素基因Ser20Gly突变筛查
引用本文:尹士男,潘长玉.40岁以下发病的糖尿病患者的临床特征及胰淀素基因Ser20Gly突变筛查[J].第四军医大学学报,2009(23):2841-2844.
作者姓名:尹士男  潘长玉
作者单位:解放军总医院第一附属医院内分泌科;解放军总医院内分泌科;
摘    要:目的:了解40岁以下发病的糖尿病患者的临床特点以及胰淀素(IAPP)Ser20Gly突变在该人群的发生情况.方法:常规方法测定234例40岁以下发病糖尿病患者的糖脂代谢、GAD抗体、胰岛素抵抗,分析其家族史和治疗情况并用PCR-RFLP和直接序列分析方法对IAPPSer20Gly突变情况进行筛查.结果:糖尿病患者的FBG,PBG2h明显高于正常人(P〈0.001),TG增高(P〈0.05),平均HbA1c(10.4±2.4)%,HOMAIR 3.63~8.60.GAD-Ab阳性者占3.42%.有糖尿病家族史者占61.54%.饮食、运动疗法和口服药物治疗者分别占40.6%,41.03%,而胰岛素治疗者有18.65%.在234例糖尿病患者中发现2例IAPP基因Ser20Gly突变者,其中1例为纯合子,另1例为杂合子突变.结论:40岁以下发病糖尿病患者存在明显代谢异常和胰岛素抵抗.IAPP Ser20Gly突变在该人群发生率约为0.85%.

关 键 词:早发糖尿病  临床特点  胰淀粉素  基因突变

Clinical characteristics and Ser20Gly mutation screening of amylin gene in 234 diabetics with onset age less than 40 years
YIN Shi-Nan,PAN Chang-Yu.Clinical characteristics and Ser20Gly mutation screening of amylin gene in 234 diabetics with onset age less than 40 years[J].Journal of the Fourth Military Medical University,2009(23):2841-2844.
Authors:YIN Shi-Nan  PAN Chang-Yu
Institution:YIN Shi-Nan1,PAN Chang-Yu2 1Department of Endocrinology,First Affiliated Hospital,Beijing 100037,2Department of Endocrinology,PLA General Hospital,Beijing 100853,China
Abstract:AIM:To study the clinical characters and the incidence of the amylin gene Ser20Gly mutation.METHODS:In 234 diabetic patients who onset diabetes before the age of 40 the parameters of the glucose and fat metabolism,anti-GAD antibody,the rate of diabetic family positive and insulin resistance were measured using routine methods.By PCR-RFLP plus direct sequencing to detect the mutation of the amylin gene Ser20Gly mutation.RESULTS:The FBG,PBG2h and TG of early onset diabetic patients were higher than the normal...
Keywords:Early-onset diabetes  clinical features  amylin  gene mutation  
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