CAJ | 학술논문

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17、20外显子的检测工作.结果:在9个黑棘皮病家系中(9名病人23位一级亲),共14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16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.
목적:위료해이도소저항산생궤제.방법:대환유흑극피병적환자응용단련구형다태성(SSCP)화DNA직접측서수단,진행료이도소수체기인17、20외현자적검측공작.결과:재9개흑극피병가계중(9명병인23위일급친),공14개이상SSCP도형출현,경직접측서학인,기중유7개시착의돌변,6개위침묵다태성,재7개착의돌변중,5개위국제상수차보도(이재제5계중일당뇨병회의급제16계국제당뇨병연합회대회보고)결론:이도소수체기인돌변치이도소저항.
Objective: To explore the relationship between the insulin resistance and the defects or mutatwns or mutatwns in insulin receptor ( InsR)gene. Methods: Using the single-strand conformation polymorphism( SSCP ), mutations and polymorphisms were detected in nine patients with acanthosis nigricans (AN) and their first degree relatives in exon 17 and 20 of InsR gene. The polymorphisms and mutations were confirmed by DNA direct sequencing. Results: Fourteen variant SSCP patterns were detected. Direct sequencing revealed seven point mutations and six silent polymorphisms. Five of the mutations appeared not to be mentioned in the previous literature. These mutations were all locatedwithin the domain of tyrokinase in InsR. Conclusion: It seem to us that almost all the AN patients with severe insulin resistance in this study have mutations in InsR tyrokinase domain.