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|Other Titles:||Genetic Analysis of the Insulin Receptor Gene in Five Taiwanese Patients with Syndromes of Insulin Resistance|
Department of Life Science, NTNU
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.
|Appears in Collections:||生物學報|
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