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目的探讨INSR基因第8外显子多态与牡丹江地区Ⅱ型糖尿病的相关性。方法采用PCR-RFLP技术,对176例牡丹江Ⅱ型糖尿病患者、148例正常人的INSR基因多态性检测,观察基因型频率及等位基因频率。结果Ⅱ型糖尿病组N1N1、N1N2、N2N2基因型频率分别为70.5%、28.4%、1.1%;N1及N2等位基因频率分别为84.7%、15.3%。正常对照组N1N1、N1N2、N2N2基因型频率分别为62.2%、28.4%、9.4%;N1及N2等位基因频率分别为76.4%、23.6%。两组之间基因型频率及等位基因频率差异有统计学意义(P<0.01)。Ⅱ型糖尿病组N2基因的频率明显低于正常对照组。结论 INSR基因多态性与牡丹江地区的Ⅱ型糖尿病发病有相关性,是II型糖尿病的主要致病基因。
Objective To investigate the association between INSR exon 8 polymorphism and type 2 diabetes mellitus in Mudanjiang. Methods PCR-RFLP technique was used to detect the polymorphism of INSR gene in 176 Mudanjiang type Ⅱ diabetic patients and 148 normal subjects. The genotype frequency and allele frequency were observed. Results The frequencies of N1N1, N1N2 and N2N2 genotypes in type Ⅱ diabetic patients were 70.5%, 28.4% and 1.1%, respectively. The frequencies of N1 and N2 alleles were 84.7% and 15.3%, respectively. The N1N1, N1N2 and N2N2 genotype frequencies in normal control group were 62.2%, 28.4% and 9.4%, respectively. The frequencies of N1 and N2 alleles were 76.4% and 23.6% respectively. There was a significant difference in genotype frequency and allele frequency between the two groups (P <0.01). The frequency of N2 gene in type II diabetes group was significantly lower than that in normal control group. Conclusion There is a correlation between INSR gene polymorphism and type II diabetes in Mudanjiang area, which is the main pathogenic gene of type II diabetes.