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The Haplotype Structure of the Human Major Histocompatibility Complex

Summary: The Haplotype Structure of the Human
Major Histocompatibility Complex
Chester A. Alper, Charles E. Larsen,
Devendra P. Dubey, Zuheir L. Awdeh,
Dolores A. Fici, and Edmond J. Yunis
ABSTRACT: There is great interest in the use of single-
nucleotide polymorphisms (SNPs) and linkage disequilib-
rium (LD) analysis to localize human disease genes. The
results suggest that the human genome, including the
major histocompatibility complex (MHC), consists
largely of 5- to 200-kb blocks of sequence fixity between
which random recombination occurs. Direct determina-
tion of MHC haplotypes from family studies also demon-
strates similar-sized blocks, but otherwise gives a very
different picture, with a third to a half of Caucasian
haplotypes fixed from HLA-B to HLA-DR/DQ (at least 1
Mb) as conserved extended haplotypes (CEHs), some of
which encompass more than 3 Mb. These fixed haplotypes
differ in frequency both in different Caucasian subpopu-
lations and in Caucasian patients with HLA-associated


Source: Alper, Chester A. - Immune Disease Institute, Harvard University


Collections: Biology and Medicine