Abstract
Families with 2 or more insulin-dependent juvenile onset diabetics (JOD) were ascertained from an ongoing epidemiologic study. Patients and offspring in 15 families were HLA typed at the A and B loci. In 10/15 families, the diabetic offspring share 2 identical haplotypes. In about half of these families there is no previous history of diabetes and the possibility exists that the disease may be due to an autosomal recessive HLA-linked gene. In 4/15 families the diabetic offspring share only 1 HLA haplotype. This group includes a family in whom three members (a mother and two sons sharing haplotype A2B40) became diabetic within the same year, and another family in whom three siblings became diabetics by the age of 5 years. Diabetic siblings share no HLA haplotypes in only 1 family. This distribution differs from that predicted by the null hypothesis of random assortment of HLA-haplotypes. The data suggest genetic heterogeneity of JOD as well as a linkage between the HLA region and gene(s) predisposing to the development of some types of JOD. No A/B recombinants were found among the 31 diabetics and 12 unaffected siblings, nor among the 7 offspring tested at the D locus by mixed lymphocyte culture. Comparison of the familial diabetics with the total JOD patients ascertained since 1971 showed in both a higher incidence in the winter months and a clustering of cases at around age 11 years. However, in the families there is an increased number of children in whom the diagnosis was made before the age of 6 years.
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Jaworski, M., Colle, E., Guttmann, R. et al. 359 GENETIC AND EPIDEMIOLOGIC STUDIES IN FAMILIES WITH MULTIPLE DIABETIC OFFSPRING. Pediatr Res 12 (Suppl 4), 423 (1978). https://doi.org/10.1203/00006450-197804001-00364
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DOI: https://doi.org/10.1203/00006450-197804001-00364