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

E. Fleischnick, Donald Douglas 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 Citations (Scopus)

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

Fingerprint

Congenital Adrenal Hyperplasia
Haplotypes
Genotype
Lactoylglutathione Lyase
Alleles
HLA-A3 Antigen
HLA-DR7 Antigen
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Genetic Markers
Phenotype
Mutation
Population

ASJC Scopus subject areas

  • Medicine(all)

Cite this

EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA : SHARED GENOTYPES IN UNRELATED PATIENTS. / Fleischnick, E.; Raum, Donald Douglas; Alosco, S. M.; Gerald, P. S.; Yunis, E. J.; Awdeh, Z. L.; Granados, J.; Crigler, J. F.; Giles, C. M.; Alper, C. A.

In: The Lancet, Vol. 321, No. 8317, 22.01.1983, p. 152-156.

Research output: Contribution to journalArticle

Fleischnick, E, Raum, DD, Alosco, SM, Gerald, PS, Yunis, EJ, Awdeh, ZL, Granados, J, Crigler, JF, Giles, CM & Alper, CA 1983, 'EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA: SHARED GENOTYPES IN UNRELATED PATIENTS', The Lancet, vol. 321, no. 8317, pp. 152-156. https://doi.org/10.1016/S0140-6736(83)92757-5
Fleischnick, E. ; Raum, Donald Douglas ; Alosco, S. M. ; Gerald, P. S. ; Yunis, E. J. ; Awdeh, Z. L. ; Granados, J. ; Crigler, J. F. ; Giles, C. M. ; Alper, C. A. / EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA : SHARED GENOTYPES IN UNRELATED PATIENTS. In: The Lancet. 1983 ; Vol. 321, No. 8317. pp. 152-156.
@article{bc7ab43e94df47a78bf211013012f3bf,
title = "EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA: SHARED GENOTYPES IN UNRELATED PATIENTS",
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.",
author = "E. Fleischnick and Raum, {Donald Douglas} and Alosco, {S. M.} and Gerald, {P. S.} and Yunis, {E. J.} and Awdeh, {Z. L.} and J. Granados and Crigler, {J. F.} and Giles, {C. M.} and Alper, {C. A.}",
year = "1983",
month = "1",
day = "22",
doi = "10.1016/S0140-6736(83)92757-5",
language = "English (US)",
volume = "321",
pages = "152--156",
journal = "The Lancet",
issn = "0140-6736",
publisher = "Elsevier Limited",
number = "8317",

}

TY - JOUR

T1 - EXTENDED MHC HAPLOTYPES IN 21-HYDROXYLASE-DEFICIENCY CONGENITAL ADRENAL HYPERPLASIA

T2 - SHARED GENOTYPES IN UNRELATED PATIENTS

AU - Fleischnick, E.

AU - Raum, Donald Douglas

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.

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.

UR - http://www.scopus.com/inward/record.url?scp=0020666820&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020666820&partnerID=8YFLogxK

U2 - 10.1016/S0140-6736(83)92757-5

DO - 10.1016/S0140-6736(83)92757-5

M3 - Article

C2 - 6130199

AN - SCOPUS:0020666820

VL - 321

SP - 152

EP - 156

JO - The Lancet

JF - The Lancet

SN - 0140-6736

IS - 8317

ER -