摘要
目的探讨胰岛素受体基因缺陷在胰岛素抵抗产生中的作用。方法运用聚合酶链反应单链构型多态性技术，对９例黑棘皮病先证者及其一级亲属２３人进行了胰岛素受体基因的第２０外显子的检测。结果发现３个点突变：Ｍｅｔ１１５３→ＩＬｅ、Ｇｌｙ１１５９→ｓｔｏｐ、Ｇｌｙ１１８５→Ａｒｇ，其中后２个点突变为国际首次报道。结论上述基因突变可能是造成胰岛素抵抗的原因之一。
Objective To explore the mutations of insulin receptor in insulin resistance. Methods 9 patients with acanthosis nigricans (AN) and their 23 first degree relatives were examined with the technique of polymeras chain reaction single strand conformation ploymerphism (PCR SSCP) and DNA direct sequencing in the exons 20 of insulin receptor gene. Results Three point mutations have been detected, i.e. Met 1153 →Ile(homozygous), Gly 1159 →stop (heterozygous), Gly 1185 →Arg (heterozygous). Among them Gly 1159 →stop and Gly 1185 →Arg have not been mentioned in the previous literature. Conclusion The results of this study strongly support that IR gene mutations in exon 20 are responsible for insulin resistance.
出处
《中华内科杂志》
CAS
CSCD
北大核心
1998年第12期811-814,共4页
Chinese Journal of Internal Medicine
基金
国家自然科学发展基金
