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  • 1
    ISSN: 1432-0428
    Keywords: HLA ; complement allotypes ; genetics ; diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A group of patients with Type 1 (insulin-dependent) diabetes mellitus was investigated for HLA-A, B and DR antigens as well as C4 and factor B polymorphism. A significant excess of DR3/DR4 heterozygotes was observed (27% versus 17% by Hardy-Weinberg expectation). The factor B allele BfF1 was present in 13% of patients with Type 1 diabetes (gene frequency of 0.08 versus 0.01 in control subjects). A rare C4 B allele, C4 B2.9, was found in 18% of patients with Type 1 diabetes (n=63) compared with 1.1% of control subjects (n=176). Total C4 deficiency at the C4A locus (C4AQ0,0) was present in 10% of patients with Type 1 diabetes compared with 0% of control subjects. Examination of HLA, C4 and Bf phenotypes in patients with Type 1 diabetes suggested that three high risk supratypes, HLA-A1 B8 BfS C4AQ0 C4 B1 DR3; HLA-B18 BfF1 C4A3 C4BQ0 DR3; HLA-A2 CW3 BW62 BfS C4A3 C4 B2.9 DR4 are markers for susceptibility alleles.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Diabetologia 22 (1982), S. 441-444 
    ISSN: 1432-0428
    Keywords: Acetylation ; genetics of diabetes ; hyperglycaemia ; neuropathy ; Type 1 and Type 2 diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Acetylator status was determined in 112 normal and 116 diabetic subjects. Forty-eight percent of the normal subjects were fast acetylators compared with 74% of the Type 1 (insulin-dependent) diabetic and 54% of the Type 2 (non-insulin-dependent) diabetic subjects. This result for Type 1 diabetic patients was significantly different from the normal subjects, while that for Type 2 patients was intermediate between the two. In contrast to a previous report, there was no significant association of acetylator status with peripheral neuropathy in subjects with either Type 1 or Type 2 diabetes. Acetylator status could be a genetic marker for Type 1 diabetes, but the increased proportion of fast acetylators in both groups suggested the possibility of an artefact due to high glucose levels. The rate of acetylation of sulphadimidine was significantly greater in both fast and slow acetylators with diabetes compared with normal subjects and there was a significant association between high plasma glucose and acetylator status. Prospective studies will be necessary to confirm whether acetylator status is a true genetic marker for diabetes.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 4
    ISSN: 1432-0428
    Keywords: Type 1 diabetes ; MHC allotype ; C4 allotype ; heterogeneity ; thyrogastric antibodies ; insulin antibody
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary HLA antigens, complement allotypes, insulin antibodies and thyrogastic autoantibodies were determined in 69 patients with Type 1 (insulin-dependent) diabetes defined by a tendency to ketosis, non-obesity and insulin requirement within 2 years of diagnosis. Analysis of HLA and C4 allotypes suggested that Type 1 diabetes was associated with only certain DR3- and DR4-containing supratypes. Low antibody response to insulin was associated with all HLA-DR3, being present in 89% of those with DR3 compared with 48% of those without. Thyrogastric autoantibodies were associated with a null allele at the C4A locus, usually with HLA-B8-C4AQO-C4B1-BfS-DR3. These results indicate that, unlike Type 1 diabetes, low insulin antibody response was associated with all HLA-DR3. Thyrogastric autoantibodies, on the other hand, were associated with a null allele at the C4A locus. It is probable that while interaction between certain HLA-DR3- and -DR4-containing supratypes is important in conferring susceptibility to Type 1 diabetes, other manifestations of autoimmunity are associated with supratypes containing C4AQ0, and in particular the diabetogenic supratype HLA-B8-C4AQ0-C4B1-BfS-DR3.
    Type of Medium: Electronic Resource
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