TY - JOUR
T1 - EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA
T2 - SHARED GENOTYPES IN UNRELATED PATIENTS
AU - Fleischnick, E.
AU - Raum, D.
AU - Alosco, S. M.
AU - Gerald, P. S.
AU - Yunis, E. J.
AU - Awdeh, Z. L.
AU - Granados, J.
AU - Crigler, J. F.
AU - Giles, C. M.
AU - Alper, C. A.
N1 - Funding Information:
We thank Miss Deborah Marcus, Miss Catherine Ramaika, and Ms Rosanne Stein for expert technical assistance; Ms Sharon Karp for help in the statistical analysis; Dr Dorothy Villee, Mrs Stephanie deVos, and Ms Kris Olsen for help in obtaining patient samples; Dr John Crawford, Dr Alia Antoon and Dr Robert Richie, Jr. for permission to study two of their patients; and Ms Diane Sullivan and Ms Karen Crane for their superb secretarial work. These studies were supported by N.I.H. grants HD 04807, HD 06276, AI 14157, AI 15033, AM 16392, AM 26844, CA 19589, and CA 20531.
PY - 1983/1/22
Y1 - 1983/1/22
N2 - 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.
AB - 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.
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U2 - 10.1016/S0140-6736(83)92757-5
DO - 10.1016/S0140-6736(83)92757-5
M3 - Article
C2 - 6130199
AN - SCOPUS:0020666820
SN - 0140-6736
VL - 321
SP - 152
EP - 156
JO - The Lancet
JF - The Lancet
IS - 8317
ER -