Establishment of a simple diagnostic method for the detection of mutations of insulin receptor gene in Non-Insulin Dependent Diabetes Mellitus

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Our previous reports (Science (1989) 24S, 63-66 ; The Lancet (1990) 335, 1179-1181) suggested the possibility that the mutations of insulin receptor gene might be involved in genetic factors of Non-Insulin Dependent Diabetes Mellitus (NIDDM). Therefore, we started to examine the frequency of the abnormalities of insulin receptor gene in NIDDM. We purified the genomic DNAs from typical 50 NIDDM patients. Eleven exons of beta subunit from 50 patients were amplified and the nucleotide sequences were determined. We found several polymorphisms in- Exon 13 and 17. There was the mutation of amino acid sequences at the same point in three NIDDM patients. We are going to check the function of the receptor which has the amino acid substitution using the expression system and the artificial mutation on the CDNA. We arealso going to examine the mutations in the 11 exons of alpha subunit. Our final goal is to establish a simple diagn ostic method for the detection of mutations of insulin receptor gene in NIDDM.