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Study on the mutations in tyrosine kinase domain of insulin receptor gene in the patients with type 2 diabetes

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Author:
No author available
Journal Title:
CHINESE JOURNAL OF DIABETES
Issue:
6
DOI:
10.3321/j.issn:1006-6187.2000.06.001
Key Word:
2型糖尿病;基因突变;Type 2 diabetes Gene mutat

Abstract: Objective To study the relationship between the mutant in insulin receptor (INSR) gene and type 2 diabetes. Methods INSR-tyrosine kinase(IRTK) domain gene (exon 17-21 of INSR gene) in 107 patients with type 2 diabetes were examined by PCR-SSCP, and the abnormal exons were then sequenced. Results 13 nonsense mutants in exon 17 and 1 mutant in exon 20 were found. Mutant exon 20 was a sense mutation at position 1191 (GAC→AAC,Asp →Asn). Conclusion In patients with type 2 diabetes, the frequency of sense mutations in IRTK gene is relatively low. The Asp 1191→Asn mutant may result in the abnormal conformation of INSR, and more work is needed to study on the effect of this aberrance.

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