Uncommon mutations and polymorphisms in the hemochromatosis gene

Pointon J.J., Wallace D., Merryweather-Clarke A.T. and Robson K.J.H. (2000) Uncommon mutations and polymorphisms in the hemochromatosis gene. Genetic Testing, 4 2: 151-161. doi:10.1089/10906570050114867


Author Pointon J.J.
Wallace D.
Merryweather-Clarke A.T.
Robson K.J.H.
Title Uncommon mutations and polymorphisms in the hemochromatosis gene
Journal name Genetic Testing   Check publisher's open access policy
ISSN 1090-6576
Publication date 2000-01-01
Year available 2000
Sub-type Article (original research)
DOI 10.1089/10906570050114867
Open Access Status
Volume 4
Issue 2
Start page 151
End page 161
Total pages 11
Place of publication NEW ROCHELLE
Publisher MARY ANN LIEBERT, INC
Language eng
Subject 2716 Genetics (clinical)
Abstract Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism, Iron absorption from the gut is inappropriately high, resulting in increasing iron overload. The hemochromatosis gene (HFE) was identified in 1996 by extensive positional cloning by many groups over a period of about 20 years. Two missense mutations were identified. Homozygosity for one of these, a substitution of a tyrosine for a conserved cysteine (C282Y), has now clearly been shown to be associated with HH in 60-100% of patients, The role of the second mutation, the substitution of an aspartic acid for a histidine (H63D), is not so clear but compound heterozygotes for both these mutations have a significant risk of developing HH, Here me review other putative mutations in the HFE gene and document a number of diallelic polymorphisms in HFE introns.
Keyword Genetics & Heredity
Medicine, Research & Experimental
Genetics & Heredity
Research & Experimental Medicine
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: ResearcherID Downloads - Archived
 
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