Abstract
Seventeen families with one or two children suffering from congenital adrenal hyperplasia (CAH) were not only typed for their HLA-A,B, and D antigens but also tested biochemically forCAH heterozygosity after ACTH stimulation. The lod score analysis showed a close genetic linkage betweenCAH andHLA, indicating that theC-21-hydroxylase deficiency gene(s) causing CAH in the homozygous deficient state are-located in close proximity to theHLA complex on chromosome 6 with an estimated recombination fraction of 0 to 5%. HLA ty** in 21 unrelated CAH patients revealed a statistically significant association to the HLA-B5 antigen with a relative risk value of 5.8. There was a significant correlation (P=0.0025) between theHLA segregation data and theCAH heterozygosity test results in relatives of CAH patients although a few ‘false negative’ results in theCAH heterozygosity test were observed. Thus, the combination of HLA ty** and this biochemical test at present provides the most precise approach for detecting CAH carriers in families of CAH patients.
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Grosse-Wilde, H., Weil, J., Albert, E. et al. Genetic linkage studies between congenital adrenal hyperplasia and the HLA blood group system. Immunogenetics 8, 41–49 (1979). https://doi.org/10.1007/BF01561412
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DOI: https://doi.org/10.1007/BF01561412