Insulin receptor gene polymorphisms in Type 2 (non-insulin-dependent) diabetes mellitus

The insulin receptor has been proposed as a candidate gene for the inherited defect in Type 2 (non-insulin-dependent) diabetes mellitus and we therefore studied three restriction fragment length polymorphic sites, two revealed with the enzyme Sst1 and one by Rsa1, using two insulin receptor cDNA pro...

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Bibliographic Details
Published in:Diabetologia 1991-04, Vol.34 (4), p.260-264
Main Authors: OELBAUM, R. S, BOULOUX, P. M. G, LI, S. R, BARONI, M. G, STOCKS, J, GALTON, D. J
Format: Article
Language:English
Subjects:
Aged
Alleles
Biological and medical sciences
Diabetes Mellitus - genetics
Diabetes Mellitus, Type 2 - genetics
DNA - blood
DNA - genetics
DNA - isolation & purification
Endocrinopathies
Exons
Female
Gene Frequency
Genotype
Humans
Male
Medical sciences
Middle Aged
Obesity
Polymorphism, Genetic
Receptor, Insulin - genetics
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Summary:The insulin receptor has been proposed as a candidate gene for the inherited defect in Type 2 (non-insulin-dependent) diabetes mellitus and we therefore studied three restriction fragment length polymorphic sites, two revealed with the enzyme Sst1 and one by Rsa1, using two insulin receptor cDNA probes in 131 Caucasian Type 2 diabetic patients and 94 control subjects. The frequency of the six alleles studied did not differ significantly between the two groups. However, one allele, a 6.2 kilobase Rsa1 fragment (R+), was found more frequently in those diabetic subjects (n = 48) with a positive family history of diabetes (R + frequency = 0.48) compared to those diabetic subjects (n = 63) with a negative family history (R + frequency = 0.34, p less than 0.05). These results suggest that this polymorphism may be a linkage marker for the genetic defect in a subgroup of Type 2 diabetic patients with a positive family history.
ISSN:0012-186X
1432-0428
DOI:10.1007/BF00405085