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Objective To identify the relationship between mutation in the insulin receptor substrate 1 (IRS 1) gene and the incidence of non insulin dependent diabetes mellitus (NIDDM) in the Chinese population Methods Samples were obtained from 68 Chinese patients with NIDDM and 68 control subjects The +1700～+4437?bp fragment of the IRS 1 gene was screened by polymerase chain reaction (PCR) single strand conformation polymorphism (SSCP) analysis 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 mutations [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 been previously reported All five variations were found in Chinese patients with NIDDM, while GCA→GCG(A 804 A) was the only one found in control subjects The overall incidence of the five variations in Chinese patients with NIDDM were much higher than that in control subjects (38 2% vs 7 4%, χ 2=18 42, P <0 01) The most common polymorphism in the Chinese population was GCA→GCG(A 804 A), and its frequency was significantly higher in Chinese patients with NIDDM than in controls (26 5% vs 7 4%, χ 2=8 84, P< 0 01) The homozygotes of the variation in patients with NIDDM 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 patients with NIDDM