Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (87)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Raha-Chowdhury, R.
Right arrow Articles by Worwood, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Raha-Chowdhury, R.
Right arrow Articles by Worwood, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1995 Oxford University Press

OTHER

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

Ruma Raha-Chowdhury, Derrick J. Bowen, Caroline Stone1, Jennifer J. Pointon1, Joseph D. Terwilliger2, Jeremy D. Shearman1,3, Kathryn J.H. Robson1, Adrian Bomford4 and Mark Worwood*

Department of Haematology, University of Wales College of Medicine Cardiff CF4 4XN 1MRC Molecular Haernatology Unit, Institute of Molecular Medicine, John Radcliffe Hospital College of Oxford OX3 9DU 2Wellcome Centre for Human Genetics, University of Oxford Headington, Oxford OX3 7BN 3Nuffield Department of Medicine, John Radcliffe Hospital Oxford OX3 9DU 4Institute of Liver Studies, King's College School of Medicine and Dentistry London SE5 BRX, UK

*To whom correspondence should be addressed

Received April 21, 1995; Revised July 14, 1995; Accepted July 14, 1995

The haemochromatosis gene (HFE) is linked to both HLA-A and D6S105 on the short arm of chromosome 6 but these markers are separated by ~2 Mb of DNA. Most chromosomes carrying HFE have a common haplotype which extends from HLA-A to D6S105 and includes HLA-F. To localise the gene more precisely we have examined 10 microsatellite markers extending over a genetic distance of ~5 cM from D6S265 (within 100 kb of HLA-A on the centromeric side) to D6S299 (telomeric). The order of markers is D6S265, HLA-F, D6S258, D6S306, CS3, D6S105, D6S464, CS5, D6S461 and D6S299. We confirm that haemochromatosis appears to originate from a founder mutation which has multiplied in the population through successive generations. This mutation is associated with the haplotype D6S306-5, CS3 D6S105-8, D6S464-9 and CS5-4 which Is found on ~70% of HFE chromosomes. We have applied a new and powerful, likelihood analysis for linkage disequilibrium. The maximum value of {lambda} (proportion of total possible association between a marker and disease) Is 0.74 for marker CS5 (allele 4). A multipoint analysis also gives a maximum likelihood near marker CS5. We conclude that the HFE gene is likely to be located telomeric of D6S105 and close to CS5.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 GutHome page
C A McCune, D Ravine, K Carter, H A Jackson, D Hutton, J Hedderich, M Krawczak, and M Worwood
Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients
Gut, April 1, 2006; 55(4): 554 - 562.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
C. Lonjou, A. Collins, R. S. Ajioka, L. B. Jorde, J. P. Kushner, and N. E. Morton
Allelic association under map error and recombinational heterogeneity: A tale of two sites
PNAS, September 15, 1998; 95(19): 11366 - 11370.
[Abstract] [Full Text] [PDF]

Home page
 GutHome page
The UK Haemochromatosis Consortium
A simple genetic test identifies 90% of UK patients with haemochromatosis
Gut, December 1, 1997; 41(6): 841 - 844.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
J. R. Gruen and S. M. Weissman
Evolving Views of the Major Histocompatibility Complex
Blood, December 1, 1997; 90(11): 4252 - 4265.
[Full Text] [PDF]

Home page
 Genome ResHome page
P. Lauer, N. C. Meyer, C. E. Prass, S. M. Starnes, R. K. Wolff, and A. Gnirke
Clone-Contig and STS Maps of the Hereditary Hemochromatosis Region on Human Chromosome 6p21.3-p22
Genome Res., May 1, 1997; 7(5): 457 - 470.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.