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

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 alle...

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Veröffentlicht in:Diabetologia 1985-04, Vol.28 (4), p.218-222
Hauptverfasser: HITMAN, G. A, TARN, A. C, WINTER, R. M, DRUMMOND, V, WILLIAMS, L. G, JOWETT, N. I, BOTTAZZO, G. F, GALTON, D. J
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container_issue 4
container_start_page 218
container_title Diabetologia
container_volume 28
creator HITMAN, G. A
TARN, A. C
WINTER, R. M
DRUMMOND, V
WILLIAMS, L. G
JOWETT, N. I
BOTTAZZO, G. F
GALTON, D. J
description 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.
doi_str_mv 10.1007/BF00282236
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source MEDLINE; SpringerLink Journals
subjects Alleles
Biological and medical sciences
Chromosomes, Human, 6-12 and X
Diabetes Mellitus, Type 1 - genetics
Diabetes. Impaired glucose tolerance
DNA Transposable Elements
Endocrine pancreas. Apud cells (diseases)
Endocrinopathies
Etiopathogenesis. Screening. Investigations. Target tissue resistance
Female
Genetic Linkage
Genotype
Histocompatibility Antigens Class II - genetics
HLA-DR Antigens
Humans
Insulin - genetics
Male
Medical sciences
Pedigree
title Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11
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