A study on the mutation of insulin receptorsubstrate-1 gene in Chinese patients with type 2 diabetes mellitus
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DIABETES
- Issue:
- 2
- DOI:
- 10.3321/j.issn:1006-6187.2000.02.003
- Key Word:
- 胰岛素受体底物-1;基因;变异;2型糖尿病;Insulin receptor substrate 1 Gene Mutation Type 2 diabetes mellitus
Abstract： Objective To identify whether the mutation of insulin receptor substrate 1 (IRS 1) gene is associated with type 2 diabetes mellitus in Chinese. Methods The +1700～+4437 bp fragment of IRS 1 gene were screened using polymerase chain reaction (PCR) single strand conformation polymorphism (SSCP) analysis in 68 Chinese patients with type 2 DM and 68 control subjects. All SSCP variations were submitted to DNA sequence analysis.Results Two amino acid variations[GGG→AGG(G 971 R) and CCT→TCT(P 1079 S)] and 3 silent mutation [GAT→GAC(D 422 D), CCA→CCC(P 737 P) and GCA→GCG(A 804 A)] were identified, among which the CCA→CCC(P 737 P) and CCT→TCT(P 1079 S) have not previously been reported. All the five variations were found in Chinese patients with type 2 DM, while GCA→GCG(A 804 A) was the only one that was found in control subjects. The total incidence of the five variations in Chinese patients with type 2 DM were much higher than that in control subjects (38 2% vs 7 4%,χ 2=18 42, P<0 01). The most common polymorphism was GCA→GCG(A 804 A) in Chinese population, and its frequency was significantly higher in patients with type 2 DM than that in control subjects (26 5% vs 7 4%, χ 2=8 84,P<0 01). The homozygotes of the variation in patients with type 2 DM and control subjects were 8 8% and 1 5%, respectively (χ 2=2 41,P>0 05).Conclusion These results indicate that there may be a relation between these nucleotide variations of IRS 1 gene and Chinese type 2 DM.
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