Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene

Crawford, D. H. G., Powell, L. W., Leggett, B. A., Francis, J. S., Fletcher, L. M., Webb, S. I., Halliday, J. W. and Jazwinska, E. C. (1995) Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene. American Journal of Human Genetics, 57 2: 362-367.

Author Crawford, D. H. G.
Powell, L. W.
Leggett, B. A.
Francis, J. S.
Fletcher, L. M.
Webb, S. I.
Halliday, J. W.
Jazwinska, E. C.
Title Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
Publication date 1995-08-01
Sub-type Article (original research)
Volume 57
Issue 2
Start page 362
End page 367
Total pages 6
Place of publication Cambridge, MA, United States
Publisher Cell Press
Language eng
Abstract Hemochromatosis (HC) is a common inherited disorder of iron metabolism for which neither the gent nor biochemical defect have yet been identified. The aim of this study was to look for clinical evidence that the predominant ancestral haplotype in Australian patients is associated with a common mutation in the gene. We compared indices of iron metabolism and storage in three groups of HC patients categorized according to the presence of the ancestral haplotype (i.e., patients with two copies, one copy, and no copies of the ancestral haplotype). We also examined iron indices in two groups of HC heterozygotes (those with the ancestral haplotype and those without) and in age-matched controls. These analyses indicate that (i) HC patients with two copies of the ancestral haplotype show significantly more severe expression of the disorder than those with one copy or those without, (ii) HC heterozygotes have partial clinical expression, which may be influenced by the presence of the ancestral haplotype in females but not in males, and (iii) the high population frequency of the HC gene may be the result of the selective advantage conferred by protecting heterozygotes against iron deficiency.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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