Complement genes of the major histocompatibility complex (complotypes), extended haplotypes and disease markers.

C. A. Alper, Z. Awdeh, D. Raum, E. J. Yunis

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

The human major histocompatibility complex (MHC)-linked genes C2,BF,C4A,C4B occur in populations and segregate in families as single genetic units or complotypes. Analysis for significant three-point linkage disequilibrium between HLA-B, DR and complotype on normal caucasian chromosomes 6p yields about a dozen haplotypes that account for most of the known HLA-B/HLA-DR linkage disequilibrium pairs previously noted in normal caucasian populations. We refer to the HLA-B/DR/complotype sets with significant linkage disequilibrium as extended haplotypes since they often show limited variation at other MHC-linked loci. From the study of MHC haplotypes in 21-hydroxylase deficiency, C2 deficiency and type 1 diabetes, it is becoming apparent that it is extended haplotypes rather than their individual alleles that are markers for these MHC-associated diseases.

Original languageEnglish (US)
Pages (from-to)19-28
Number of pages10
JournalBiochemical Society Symposia
Volume51
StatePublished - Dec 1 1986
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry

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