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Nat Genet. 1996 Aug;13(4):399-408.

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Author information

1
Mercator Genetics, Inc., Menlo Park, California 94025, USA.

Abstract

Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi-organ dysfunction caused by increased iron deposition, and is treatable if detected early. Using linkage-disequilibrium and full haplotype analysis, we have identified a 250-kilobase region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical-by-descent in 85% of patient chromosomes. Within this region, we have identified a gene related to the MHC class I family, termed HLA-H, containing two missense alterations. One of these is predicted to inactivate this class of proteins and was found homozygous in 83% of 178 patients. A role of this gene in haemochromatosis is supported by the frequency and nature of the major mutation and prior studies implicating MHC class I-like proteins in iron metabolism.

PMID:
8696333
DOI:
10.1038/ng0896-399
[Indexed for MEDLINE]

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