单链构象多态性技术在胰岛素受体基因突变检测中的应用

A study of detection of gene mutation by single conformation polymorphism

建立聚合酶链反应－单链构象多态性和银染技术筛查胰岛素受体基因突变方法。选择８９例非胰岛素依赖性糖尿病（ＮＩＤＤＭ）患者，扩增胰岛素受体基因的外显子１７－２１，ＳＳＣＰ电泳，银染色后，对突变样品进行序列分析。结果发现８例外显子１７和１例外显子２０的异常电泳条带，外显子１７的突变经顺序分析为ｃｏｄｏｎ１０５８（ＣＡＣ→ＣＡＴ）的纯合和杂合无意义突变。

To establish polymerase chain reaction single strand conformation polymorphism(PCR SSCP)and silver staining technique to screen mutation of insulin receptor gene.89 NIDDM were collected.Exon 17～21 of insulin receptor gene were amplified by PCR and screened by SSCP electrophoresis.After silver staining,the mutation samples were sequencing.8 variant sequence in exon 17 and 1 in exon 20 were detected.Based on direct sequence analysis of exon 17,homozygous and heterozygous nonsense mutations were found silent polymorphism at position 1058(CAC→CAT).