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

楊 喬雯(Chyau-Wen Yang), 林 炫沛, 張 心怡(Shin-Yi Chang), 李 桂楨(Guey-Jen Lee)

Research output: Contribution to journalArticle

Abstract

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 Ala 815 and Ser 895. 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 Ala 523, intron 11 +90G>C, and exon 17 His1058 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.
Original languageChinese
Pages (from-to)125-134
Number of pages10
Journal師大生物學報
Volume35
Issue number2
DOIs
Publication statusPublished - 2000

Cite this

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. / 楊喬雯(Chyau-Wen Yang); 林炫沛; 張心怡(Shin-Yi Chang); 李桂楨(Guey-Jen Lee).

In: 師大生物學報, Vol. 35, No. 2, 2000, p. 125-134.

Research output: Contribution to journalArticle

楊喬雯(Chyau-Wen Yang) ; 林炫沛 ; 張心怡(Shin-Yi Chang) ; 李桂楨(Guey-Jen Lee). / 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. In: 師大生物學報. 2000 ; Vol. 35, No. 2. pp. 125-134.
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abstract = "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 Ala 815 and Ser 895. 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 Ala 523, intron 11 +90G>C, and exon 17 His1058 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.",
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AU - 楊, 喬雯(Chyau-Wen Yang)

AU - 林, 炫沛

AU - 張, 心怡(Shin-Yi Chang)

AU - 李, 桂楨(Guey-Jen Lee)

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AB - 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 Ala 815 and Ser 895. 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 Ala 523, intron 11 +90G>C, and exon 17 His1058 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.

KW - 胰島素阻抗性症候群

KW - 胰島素受器

KW - 基因變異

KW - Syndromes of insulin resistance

KW - Insulin receptor

KW - Gene variation

U2 - 10.29812/BBNTNU.200012.0004

DO - 10.29812/BBNTNU.200012.0004

M3 - 文章

VL - 35

SP - 125

EP - 134

JO - 師大生物學報

JF - 師大生物學報

SN - 0378-8091

IS - 2

ER -