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題 名 | Genetic Analysis of the Insulin Receptor Gene in Chinese Patients with Extreme Insulin Resistance=國人重度胰島素阻抗性患者之胰島素受器基因突變分析 |
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作 者 | 李文珍; 許惠恆; 徐山靜; 姚盈娥; | 書刊名 | 中華醫學雜誌 |
卷 期 | 61:11 1998.11[民87.11] |
頁 次 | 頁636-642 |
分類號 | 415.928 |
關鍵詞 | 重度胰島素阻抗性; 基因分析; 胰島素受器基因; 單股結構多態性; Extreme insulin resistance; Genetic analysis; Insulin receptor gene; Single-strand conformation polymorphism; |
語 文 | 英文(English) |
中文摘要 | 背景 許多重度胰島素阻抗性合併黑棘皮症患者,其胰島素受器基因被鑑定出有 缺陷。黑棘皮症通常伴有嚴重的高胰島素血症以及肥胖,而肥胖對於導致胰島素阻抗性有很 大的影響,因此本研究針對國內重度胰島素阻抗性高胰島素血症合併黑棘皮症皮及肥胖的患 者,進行胰島素受器基因突變分析。 方法 從13位罹患重度胰島素阻抗性患者的血液中萃取出genomic DNA,以聚合 連 鎖反應分別增殖出胰島素受器基因1至22的序列(exons),再利用單股結構多態性分析以及 核酸定序法來鑑定患者胰島素受器基因的變異。 結果 在某些擊者胰島素受器基因exons 1、3、6、11、12以及17的DNA片段上分別 發展變異的單股結構多態性形態,然而核酸定序結果顯示,這些變異全都只是基因多態性而 不是基因突變所引起。Exon 1變異是由一個新的intron 基因多態性(G→T,在5' intron的位 置13)引發;exon 12的變異是由於發生了一個新的沉默基因多態性Thr (AC →AC )引 發;exon 3和17的變異是由已知的沉默基因多態生Gln (GA →CA )以及His (CA → CA )所引發;其它的三個變異則是由於發生了已知的intron基因多態性所引發。此外,我 們在exon 1也發現了兩個變異:一個是沉默基因多態性Gly (GG →GG );另一個是intron 基因多態性(T→G,3' intron的位置74)。 結論 即使受單股結構多態性分析敏感度的限制,有可能低估了胰島素受器基因突變的 發生率,但本研究的結果顯示:國內高胰島素血症合併黑棘皮症及肥胖的患者,其胰島素受 器基因突變的發生率仍然相當低。 |
英文摘要 | Background. May patients with extreme insulin resistance in combination with acanthosis nigricans are reported to have defective insulin receptor genes. Because acanthosis nigricans is commonly accompanied by severe hyperinsulinemia and obesity, and obesity is a major factor in insulin resistance, this study was initiated to assess the prevalence of mutations in the insulin receptor gene in Chinese patients with extreme insulin resistance defined by hyperinsulinemia, obesity and acanthosis nigricans. Methods. Exons 1-22 of the insulin receptor gene were amplified by polymerase chain reaction (PCR) by from genomic DNA form 13 young subjects with clinical and metabolic features of extreme insulin resistance. They were also screened for nucleotide variation using single-strand conformation polymorphism (SSCP) combined with nucleotide sequence analysis. Results. Variant SSCP patterns were detected in exons 1,3,6,11,12 and 17 of the insulin receptor gene. However, sequencing of amplified DNA fragments revealed that none of the variations were mutations. The SSCP variant in exon 1 was caused by a novel intron polymorphism (G→T at position 13, 5' intron), while the SSCP variant in exon 12 was caused by a novel silent polymorphism Thr (AC →AC ). Variants in exons 3 and 17 corresponded to known silent polymorphisms: Gln (CA →CA ) and His (CA →CA ), respectively. Another three variants in exons3, 6 and 11 were also identified as known polymorphisms in the flanking introns. In addition, two alterations, a silent polymorphism Gly (GG →GG ) and a polymorphism in the 3' flanking intron (T→G at position 74), were observed in exon 1 of the insulin receptor gene. Conclusions. Although the prevalence of insulin receptor gene mutations in this Chinese study population might be underestimated because of the sensitivity of SSCP, these results suggest that mutations at the insulin receptor locus are uncommon in subjects with features of hyperinsulinemia, obesity and acanthosis nigricans. |
本系統中英文摘要資訊取自各篇刊載內容。