Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1985-04

AUTHORS

G. A. Hitman, A. C. Tarn, R. M. Winter, V. Drummond, L. G. Williams, N. I. Jowett, G. F. Bottazzo, D. J. Galton

ABSTRACT

A polymorphic DNA sequence in the 5'-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 allele. The Class 2 allele was not observed in this group of subjects. Genotype frequencies in a control population (n = 88) were: homozygous 1/1, 42%; heterozygous 1/3, 50%; and homozygous 3/3, 8%. Corresponding genotype frequencies in 53 Type 1 diabetic patients were 79%, 21% and 0%, respectively (p less than 0.0005 from chi 2 test). This confirms prevalence data reported by Bell et al. [16]. There appeared to be no coinheritance with HLA-DR3/DR4 related antigens, nor with autoimmune features. Analysis of 17 Type 1 diabetic pedigrees including 34 diabetic and 69 non-diabetic subjects did not demonstrate genetic linkage of these DNA inserts with diabetes, using an autosomal recessive, single locus model of inheritance. More... »

PAGES

218-222

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00282236

DOI

http://dx.doi.org/10.1007/bf00282236

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050345818

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2991052


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