EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA: SHARED GENOTYPES IN UNRELATED PATIENTS

E. Fleischnick, D. Raum, S. M. Alosco, P. S. Gerald, E. J. Yunis, Z. L. Awdeh, J. Granados, J. F. Crigler, C. M. Giles, C. A. Alper

Research output: Contribution to journalArticle

50 Scopus citations

Abstract

HLA, complement, and glyoxalase I alleles were studied in 29 families in which at least one member has classical 21-hydroxylase-deficiency congenital adrenal hyperplasia. A rare complement allele, C4B*31, was found in over 20% of the haplotypes defined in these families and was always part of the complement haplotype BF*F, C2*C, C4A*QO, C4B*31 (abbreviated FCO,31). The haplotype containing this rare set of complement alleles always carried the rare HLA allele, HLA-Bw47, usually carried HLA-A3, and almost always had the alleles HLA-Cw6, HLA-DR7, and the glyoxalase I (GLO) allele GLO1. Thus over 20% of the haplotypes in the population studied contained all or almost all of the rare extended haplotype HLA-(A3), Bw47, Cw6,DR7, FCO,31, GLO 1. 3 other haplotypes were each found twice in unrelated patients concordant for their disease phenotype and ethnic background. Extended MHC haplotypes may be markers for different genetic mutations causing 21-hydroxylase deficiency.

Original languageEnglish (US)
Pages (from-to)152-156
Number of pages5
JournalThe Lancet
Volume321
Issue number8317
DOIs
StatePublished - Jan 22 1983
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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    Fleischnick, E., Raum, D., Alosco, S. M., Gerald, P. S., Yunis, E. J., Awdeh, Z. L., Granados, J., Crigler, J. F., Giles, C. M., & Alper, C. A. (1983). EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA: SHARED GENOTYPES IN UNRELATED PATIENTS. The Lancet, 321(8317), 152-156. https://doi.org/10.1016/S0140-6736(83)92757-5