title: Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11.
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.
authors.forename: G A
authors.initials: GA
authors.lastname: Hitman
authors.forename: A C
authors.initials: AC
authors.lastname: Tarn
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: V
authors.initials: V
authors.lastname: Drummond
authors.forename: L G
authors.initials: LG
authors.lastname: Williams
authors.forename: N I
authors.initials: NI
authors.lastname: Jowett
authors.forename: G F
authors.initials: GF
authors.lastname: Bottazzo
authors.forename: D J
authors.initials: DJ
authors.lastname: Galton
mesh_terms: D000483:Alleles; D002906:Chromosomes, Human, 6-12 and X; D004251:DNA Transposable Elements; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006684:HLA-DR Antigens; D000949:Histocompatibility Antigens Class II / Q000235:genetics; D006801:Humans; D007328:Insulin / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D004251:DNA Transposable Elements; D006684:HLA-DR Antigens; D000949:Histocompatibility Antigens Class II; D007328:Insulin