Summary
HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping.
The gene frequencies of the 52 index cases were compared with those obtained from the parents' normal haplotypes and with those of a control reference panel.
No significant differences were observed, except a clear decrease in the frequency of HLA-B8 among the haplotypes that carry the gene for congenital adrenal hyperplasia.
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Bodmer, W. F.: Joint report of the Seventh International Histocompatibility Workshop. Histocompatibility Testing. Bodmer, W. F., Batchelor, J. R., Bodmer, J. G. (eds.), pp. 351–357. Copenhagen: Munksgaard 1977
Couillin, P., Nicolas, H., Boué, J., Boué, A.: HLA typing of amniotic fluid cells applied to prenatal diagnosis of congenital adrenal hyperplasia. Lancet 1979I, 1076
Dausset, J., Legrand, L., Lepage, V., Contu, L., Marcelli-Barge, A., Wildloecher, I., Benajam, A., Meo, T., Degos, L.: A haplotype study of HLA complex with special reference to the HLA-DR series and to Bf-C2 and Glyoxalase I polymorphisms. Tissue Antigens 12, 297–307 (1978)
Dupont, B., Oberfield, S. E., Smithwick, E. M., Lee, T. D., Levine, L. S.: Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet 1977 II, 1309–1312
Feingold, N., Degos, L., Feingold, J.: HLA in populations: An approach for genetical susceptibility to cancer. J. Immunogenet. 6, 29–35 (1979)
Grosse-Wilde, H., Weil, J., Albert, E., Scholz, S., Bidlingmaier, F., Sippel, W. G., Knorr, D.: Genetic linkage studies between congenital adrenal hyperplasia and the HLA blood group system. Immunogenetics 8, 41–49 (1979)
Klouda, P. T., Harris, R., Price, D. A.: HLA and congenital adrenal hyperplasia. Lancet 1978 II, 1046
Levine, L. S., Zachmann, M., New, M. I., Prader, A., Pollack, M. S., O'Neill, G. J., Yang, S. Y., Oberfield, S. E., Dupont, B.: Genetic mapping of the 21-hydroxylase deficiency gene within the HLA linkage group. N. Engl. J. Med. 299, 911–915 (1978)
Mittal, K. K., Mickey, M. R., Singal, D. P., Terasaki, P. I.: Refinement of microdroplet lymphocyte cytotoxicity test. Transplantation 6, 913–927 (1968)
Murtaza, L. M., Hughes, I. A., Sibert, I. R., Balfour, I. C.: HLA and congenital hyperplasia. Lancet 1978 II, 524
Pollack, M. S., Levine, L. S., Pang, S., Owens, R. P., Nitowsky, H. M., Maurer, D., New, M. I., Duchon, M., Merkatz, I. R., Sachs, G., Dupont, B.: Prenatal diagnosis of congentital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing. Lancet 1979 I, 1107–1108
Price, D. A., Klouda, P. T., Harris, R.: HLA and congenital adrenal hyperplasia linkage confirmed. Lancet 1978 I, 930–931
Pucholt, V., Fitzsimmons, J. S., Geltshorpe, K., Pratt, R. F., Doughty, R. W.: HLA and congenital adrenal hyperplasia. Lancet 1978 II, 1046–1047
Weitkamp, L. R., Bryson, M., Bacon, G. E.: HLA and congenital adrenal hyperplasia linkage confirmed. Lancet 1978 I, 931–932
Zappacosta, S., Felice, M. de, Minozzi, M., Lombardi, G., Valentino, R., Vanacore, G.: HLA and congenital hyperplasia. Lancet 1978 II, 524
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Couillin, P., Kottler-Missonnier, M.L., Grisard, M.C. et al. HLA-A, B, C, DR alleles in congenital adrenal hyperplasia. Hum Genet 53, 389–392 (1980). https://doi.org/10.1007/BF00287061
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DOI: https://doi.org/10.1007/BF00287061