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对一名有显著胰岛淀粉样沉积的日本糖尿病患者进行胰岛淀粉样多肽(IAPP)基因分析。

Islet amyloid polypeptide (IAPP) gene analysis in a Japanese diabetic with marked islet amyloid deposition.

作者信息

Kajio H, Kobayashi T, Hara M, Nakanishi K, Sugimoto T, Murase T, Akanuma Y, Kosaka K, Shibasaki Y, Kasuga M

机构信息

Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.

出版信息

Diabetes Res Clin Pract. 1992 Jan;15(1):45-8. doi: 10.1016/0168-8227(92)90066-z.

DOI:10.1016/0168-8227(92)90066-z
PMID:1541234
Abstract

Islet amyloid polypeptide (IAPP) is a major constituent of pancreatic amyloid deposits in many patients with non-insulin-dependent diabetes mellitus (NIDDM). We analyzed the IAPP gene in a Japanese diabetic with marked islet amyloid deposition. Pancreatic specimens were obtained from an 87-year-old NIDDM patient who had had diabetes for 37 years. All islets (100/100) in his pancreas had IAPP-positive amyloid deposition, and 70% of the area of the islet was replaced by amyloid. We amplified the coding regions as well as the upstream region of the IAPP gene by polymerase chain reaction (PCR). The products of PCR were sequenced, and the sequences of the coding regions were identical to the Caucasian ones. However, the nucleotides of two positions of 5'-upstream and one position of intron 2 were different from the Caucasian data: the upstream region of the IAPP gene in the patient had cytosine substituted for thymine at -259, and had two alleles including cytosine and adenine at -229, respectively. The nucleotide of position 539, that is guanine, was deleted. A possible difference in the IAPP promoting region between the Japanese and Caucasian population was suggested.

摘要

胰岛淀粉样多肽(IAPP)是许多非胰岛素依赖型糖尿病(NIDDM)患者胰腺淀粉样沉积物的主要成分。我们分析了一名有明显胰岛淀粉样沉积的日本糖尿病患者的IAPP基因。胰腺标本取自一名87岁的NIDDM患者,其患糖尿病已有37年。他胰腺中的所有胰岛(100/100)均有IAPP阳性淀粉样沉积,且胰岛面积的70%被淀粉样物质取代。我们通过聚合酶链反应(PCR)扩增了IAPP基因的编码区以及上游区域。对PCR产物进行测序,编码区序列与白种人的序列相同。然而,5'-上游区域的两个位置和内含子2的一个位置的核苷酸与白种人的数据不同:该患者IAPP基因的上游区域在-259处胞嘧啶取代了胸腺嘧啶,在-229处有两个分别包含胞嘧啶和腺嘌呤的等位基因。第539位的核苷酸,即鸟嘌呤,缺失。提示日本人和白种人在IAPP促进区域可能存在差异。

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1
Islet amyloid polypeptide (IAPP) gene analysis in a Japanese diabetic with marked islet amyloid deposition.对一名有显著胰岛淀粉样沉积的日本糖尿病患者进行胰岛淀粉样多肽(IAPP)基因分析。
Diabetes Res Clin Pract. 1992 Jan;15(1):45-8. doi: 10.1016/0168-8227(92)90066-z.
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Islet amyloid polypeptide (IAPP) and pancreatic islet amyloid deposition in diabetic and non-diabetic patients.糖尿病和非糖尿病患者的胰岛淀粉样多肽(IAPP)与胰岛淀粉样沉积
Diabetes Res Clin Pract. 1992 Jan;15(1):3-14. doi: 10.1016/0168-8227(92)90060-5.
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Islet amyloid polypeptide: a review of its biology and potential roles in the pathogenesis of diabetes mellitus.胰岛淀粉样多肽:其生物学特性及其在糖尿病发病机制中的潜在作用综述
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Islet amyloid polypeptide: pinpointing amino acid residues linked to amyloid fibril formation.胰岛淀粉样多肽:确定与淀粉样纤维形成相关的氨基酸残基。
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Islet pathology of non-insulin-dependent diabetes mellitus (NIDDM).非胰岛素依赖型糖尿病(NIDDM)的胰岛病理学
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Spontaneous diabetes mellitus in transgenic mice expressing human islet amyloid polypeptide.表达人胰岛淀粉样多肽的转基因小鼠中的自发性糖尿病
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Human islet amyloid polypeptide accumulates at similar sites in islets of transgenic mice and humans.人胰岛淀粉样多肽在转基因小鼠和人类的胰岛中相似部位积累。
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Molecular biology of islet amyloid polypeptide.
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Islet amyloid in type 2 (non-insulin-dependent) diabetes.2型(非胰岛素依赖型)糖尿病中的胰岛淀粉样变
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Islet amyloid polypeptide: demonstration of mRNA in human pancreatic islets by in situ hybridization in islets with and without amyloid deposits.胰岛淀粉样多肽:通过对有和没有淀粉样沉积物的人胰岛进行原位杂交来证明人胰岛中存在信使核糖核酸。
Diabetologia. 1993 Apr;36(4):323-8. doi: 10.1007/BF00400235.

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