臺灣五位胰島素阻抗性症候群患者的胰島素受器變異分析

Abstract

本研究以PCR及DNA定序的技術，檢視臺灣5位胰島素阻抗性症候群患者的胰島素受器基因。結果僅發現多種多型性變異，其中A1a815、Ser 895未被報導過。進一步以限制酵素切割的檢測試驗，對一正常人族群進行分析，結果發現各多型性基因座之遺傳情形均處於哈溫平衡。當分析介入子7的+28A>C、表現子8的A1a523、介入子11的+90G>C、表現子17的His1058等較普遍的多型性單套型時，發現+28A>C、Ala523的單套型處於連鎖不平衡狀態。由於並未於患者中發現任何和疾病相關的突變，故推論國內臨床上表現高度胰島素阻抗性、小精靈顏面及黑棘皮症等性狀的患者，其胰島素受器突變的發生率相當低。

Genetic variations of the insulin receptor gene in five Taiwanese patients with syndromes of insulin resistance were investigated. The coding sequences of the insulin receptor gene were amplified and examined by DNA sequencing. A number of polymorphisms were identified, including novel Ala815 and Ser895. By PCR and restriction analysis of a normal population, all the polymorphisms examined were in Hardy-Weinberg equilibrium. When the polymorphic haplotype among intron 7 +28A>C, exon 8 Ala523, intron 11 +90G>C, and exon 17 His 1058 polymorphisms were examined, linkage disequilibrium between +28A>C and Ala523 polymorphisms were observed. Since no mutations were identified, the results suggest that mutations at the insulin receptor locus are uncommon in Taiwanese patients with features of severe insulin resistance, dysmorphic facies and acanthosis nigricans.