受体，胰岛素_基因_突变_胰岛素抵抗(期刊论文)

胰岛素受体基因突变的研究

http://www.100md.com 《中华内科杂志》 1998年第12期

受体，胰岛素|基因|突变|胰岛素抵抗,关键词：

     沈捷丁国宪陈家伟魏勇庄旻马立隽 210029 南京医科大学第一附属医院内分泌科(沈捷、丁国宪、陈家伟、马立隽)；复旦大学遗传学研究所(魏勇)；中国科学院化学研究所(庄旻) 中华内科杂志 1998 0 0 12

    关键词：受体，胰岛素；基因；突变；胰岛素抵抗期刊 zhnkzz 0 论著 fur -->

【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。

Detection of mutations in the kinasedomain of insulin receptor in patients with acanthosis nigricans Shen Jie, Ding Guoxian, Chen Jiawei, et al. Department ofEndocrinology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029

【Abstract 】 Objective Toexplore the mutations of insulin receptor in insulin resistance. Methods 9 patients with acanthosis nigricans (AN) and their 23 first degreerelatives were examined with the technique of polymeras chain reaction-single strandconformation ploymerphism (PCR-SSCP) and DNA direct sequencing in the exons 20 of insulinreceptor gene. Results Three pointmutations have been detected, i.e. Met¹¹⁵³→Ile(homozygous), Gly¹¹⁵⁹→stop (heterozygous), Gly¹¹⁸⁵→Arg (heterozygous). Among them Gly¹¹⁵⁹→stop and Gly¹¹⁸⁵→Arghave not been mentioned in the previous literature. Conclusion The results of this study strongly support that IR gene mutationsin exon 20 are responsible for insulin resistance.

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