应用SSCP检测非胰岛素依赖型糖尿病Glut_4基因突变

Study of Genetic Mutations in Patients with NIDDM by PCR SSCP

实验选择了一对葡萄糖转运蛋白基因（Ｇｌｕｔ４基因）外显子４α的侧翼引物，应用单链构型多态性（ＰＣＲ－ＳＳＣＰ）方法，扩增６０例非胰岛素依赖型糖尿病（ＮＩＤＤＭ）患者外周淋巴细胞基因组的ＤＮＡ，经琼脂糖凝胶电泳检测证实为２５２ｂｐ，该产物经６％非变性聚丙烯酰胺凝胶电泳检测发现１例异常带型，显示了电泳的泳动变位。进一步深入研究ＮＩＤＤＭ的遗传异质性。

We selected primers flanking exon 4α of the Glut 4 gene and amplified a 252bp fragmen by using PCR method.We detected 60 cases of NIDDM patients peripheral blood,the results showed that one case is variant band.PCR SSCP is the method which is used to detect DNA mutation.It utilizes the fact that the electrophoretic mobility of single standed DNA in nondenaturing gel depends not only on its size,but also on its conformation.Therefore,We study mutation of Glut 4 gene of NIDDM patients by SSCP.