目的研究胰岛素受体底物-1(IRS-1)基因变异与2型糖尿病(NIDDM)发生的关系.方法:采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析方法筛选了68例中国人(来自长沙的病例)2型糖尿病患者和68例正常对照的胰岛素受体底物-1基因的+170...目的研究胰岛素受体底物-1(IRS-1)基因变异与2型糖尿病(NIDDM)发生的关系.方法:采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析方法筛选了68例中国人(来自长沙的病例)2型糖尿病患者和68例正常对照的胰岛素受体底物-1基因的+1700～+4437bp片段.结果中国人2型糖尿病患者胰岛素受体底物-1基因变异的发生频率明显高于正常对照(38.2% vs. 7.4%,χ2=18.42,P<0.01).结论胰岛素受体底物-1基因的核苷酸变异可能与中国人(来自长沙的病例)2型糖尿病的发生相关.展开更多
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: Sample...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 (G971 R) and CCT-->TCT (P1079 S)] and 3 silent mutations [GAT-->GAC(D422D), CCA-->CCC(P737 P) and GCA-->GCG (A804 A)] were identified, among which the CCA-->CCC(P737 P) and CCT-->TCT(P1079S) have not been previously reported. All five variations were found in Chinese patients with NIDDM, while GCA-->GCG(A804A) 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%, chi 2 = 18.42, P GCG (A804A), and its frequency was significantly higher in Chinese patients with NIDDM than in controls (26.5% vs 7.4%, chi 2 = 8.84, 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.展开更多
文摘目的研究胰岛素受体底物-1(IRS-1)基因变异与2型糖尿病(NIDDM)发生的关系.方法:采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析方法筛选了68例中国人(来自长沙的病例)2型糖尿病患者和68例正常对照的胰岛素受体底物-1基因的+1700～+4437bp片段.结果中国人2型糖尿病患者胰岛素受体底物-1基因变异的发生频率明显高于正常对照(38.2% vs. 7.4%,χ2=18.42,P<0.01).结论胰岛素受体底物-1基因的核苷酸变异可能与中国人(来自长沙的病例)2型糖尿病的发生相关.
文摘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 (G971 R) and CCT-->TCT (P1079 S)] and 3 silent mutations [GAT-->GAC(D422D), CCA-->CCC(P737 P) and GCA-->GCG (A804 A)] were identified, among which the CCA-->CCC(P737 P) and CCT-->TCT(P1079S) have not been previously reported. All five variations were found in Chinese patients with NIDDM, while GCA-->GCG(A804A) 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%, chi 2 = 18.42, P GCG (A804A), and its frequency was significantly higher in Chinese patients with NIDDM than in controls (26.5% vs 7.4%, chi 2 = 8.84, 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.
