A study of detection of gene mutation by single conformation polymorphism

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).