一个2型糖尿病家系ATP敏感性钾通道基因突变分析

目的了解ATP敏感性钾通道（KATP）基因突变在一个2型糖尿病（T2DM）家系中的发生情况。方法提取家系成员的外周血DNA，用PCR扩增磺酰脲类受体1（SUR-1）基因第16、18、31外显子和KIR 6.2基因，用单链构象多态性分析（SSCP）检测PCR产物，对SSCP电泳结果异常者进行DNA序列分析。结果（1）在17名家系成员中，未检测到SUR-1基因第18号外显子ACC→ACT和第31外显子AGG→AGA突变；（2）SUR-1基因第16号外显子-3C→T的T等位基因频率为65％，比普通T2DM人群高8％；（3）KIR 6.2基因E23K的K等位基因频率38％，比普通T2DM人群低3％。结论SUR-1基因第16号外显子-3C→T多态性可能与饮食、环境等因素共同作用，参与该家系T2DM的发生和发展。

Study on the mutation of ATP-sensitive potassium channel gene in a diabetes mellitus family

Objective To study the mutations of ATP-sensitive potassium channel gene in a type 2 diabetes mellitus family. Methods We studied the polymorphism of the SUR1 gene in exon 16, exon 18, exon 31 and the Kir6. 2 gene by PCR-single strand conformation polymorphism（PCR-SSCP） and carried out the DNA sequencing in the SSCP-abnormal subjects. Results （1）ACC→ACT silent variant in exon 18 and AGG→AGA silent variant in exon 31 of the SUR1 gene were not found;（2）The T allele frequency in exon 16 -3 C/T of the SUR1 gene was 65% in the family, 8% higher than that in type 2 diabetes; （3）The K allele frequency for the E23K of the Kit6.2 gene was 38% in the family, 3% lower than in type 2 diabetes. Conclusions The -3C→T polymorphism of the SUR1 gene in exon 16 is correlated with type 2 diabetes mellitus in this family.