A Study on Exon 17 and 20 of the Insulin Receptor Gene Variations in Patients with Acanthosis Nigricans and Their Close Relatives  

对黑棘皮病家系胰岛素受体基因变异的研究(英文)

作　　者：沈捷[1] 丁国宪[2] 陈家伟[2] 庄旻[3] 王华[2] 夏红[2] 马向华[2] 马立隽[2] 

机构地区：[1]南京医科大学第一附属医院江苏省HLA组织配型实验室,南京210029 [2]南京医科大学第一附属医院内分泌科,南京210029 [3]上海中科院生物化学研究院

出　　处：《Journal of Nanjing Medical University》2003年第4期149-158,共10页南京医科大学学报（英文版）

基　　金：theNationalNaturalScienceFoundationofChina(39170 374)

摘　　要：Objective: To explore the relationship between the insulin resistance and thedefects or mutations or mutations in insulin receptor (InsR)gene. Methods: Using the single-strandconformation polymorphism(SSCP), mutations and polymorphisms were detected in nine patients withacan-thosis nigricans (AN) and their first degree relatives in exon 17 and 20 of InsR gene. Thepolymorphisms and mutations were confirmed by DNA direct sequencing. Results: Fourteen variant SSCPpat-terns were detected. Direct sequencing revealed seven point mutations and six silentpolymorphisms. Five of the mutations appeared not to be mentioned in the previous literature. Thesemutations were all located within the domain of tyrokinase in InsR. Conclusion: It seem to us thatalmost all the AN patients with severe insulin resistance in this study have mutations in InsRtyrokinase domain.目的 :为了解胰岛素抵抗产生机制。方法 :对患有黑棘皮病的患者应用单链构型多态性 (SSCP)和DNA直接测序手段 ,进行了胰岛素受体基因 1 7、2 0外显子的检测工作。结果 :在 9个黑棘皮病家系中 (9名病人 2 3位一级亲 ) ,共 1 4个异常SSCP图型出现 ,经直接测序确认 ,其中有 7个是错义突变 ,6个为沉默多态性 ,在 7个错义突变中 ,5个为国际上首次报道(已在第 5届中日糖尿病会议及第 1 6届国际糖尿病联合会大会报告 )结论 :胰岛素受体基因突变致胰岛素抵抗。

关 键 词：insulin receptor GENETICS canthosis nigricans 

分 类 号：R587[医药卫生—内分泌]