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  • 1
    Electronic Resource
    Electronic Resource
    Segregation of HLA-DR2 among affected and non-affected offspring of 66 families with Type 1 (insulin-dependent) diabetes (1984)
    Springer
    Diabetologia 27 (1984), S. 80-82 
    Details
    ISSN: 1432-0428
    Keywords: Type 1 diabetes ; haplotypes ; heterogeneity ; HLA-DR2 segregation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Segregation of HLA-DR2 among affected and unaffected offspring was studied in 66 HLA-genotyped families with Type 1 diabetes in whom at least one parent carried DR2. The frequency of DR2-positive parents (21%) was not different from that of control families (29%). Among the diabetic probands, the gene frequency of DR2 was significantly decreased compared with control subjects (0.05 versus 0.17, p 〈 0.001) as were DR5 (0.07 versus 0.17, p〈 0.01) and DR7 (0.06 versus 0.13, p〈0.003). Twenty probands carried DR2, in 11 of whom (55%) it was found in combination with either DR3 or DR4. The nine cases who carried another DR allele included one who was DR2 homozygous. Transmission of DR2 was reduced in affected offspring, and random in unaffected siblings, compared with the expected ratio. However, when the DR2 transmission was analysed separately for parents bearing DR2 with DR3, DR4 or another DR allele, it appeared that DR2 transmission to affected offspring was random when the parents carried neither DR3 or DR4, the transmission deficit being due to over-transmission of DR3 and DR4. The haplotype analysis showed that the haplotype A3, Cw7, B7, BfS, DR2, found in 19% of “non-diabetic” DR2 haplotypes was practically absent among “diabetic” DR2-haplotypes (4%). In conclusion, population and segregation analysis could not demonstrate a specific protective effect of DR2.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00275653
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Genetic polymorphism of the fourth component of complement and type 1 (insulin-dependent) diabetes (1984)
    Springer
    Diabetologia 27 (1984), S. 116-117 
    Details
    ISSN: 1432-0428
    Keywords: HLA ; complement ; Type 1 diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The complement proteins, Bf, C2, C4A and C4B, are closely linked to HLA. In 74 propositi and their families, and 97 controls genotyped for HLA-A, -B, -C, -DR, -Bf, a high incidence of the C4BQ0 variant was detected in the patient group (33% versus 12%, p〈 0.00001); C4BQ0 was more frequent in propositi than in non-affected siblings (40 out of 74 versus 36 out of 92, p〈0.05). When comparing the distribution of the phenotype C4BQ0 in Type 1 diabetic patients and normal control subjects, the difference was significant in patients bearing DR3 or DR4 (56% and 25%, respectively, p〈 0.003). The main linkage disequilibria were observed among the 74 propositi: B18, BfF1, C4, A3, BQ0, DR3; B12, BfS, C4, A3, BQ0, DR4. The existence of a silent allele at the C4 B locus is known to be associated with a defective immune response.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00275664
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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