New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

Human Molecular Genetics
R Raha-ChowdhuryM Worwood

Abstract

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 approximately 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 approximately 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, CS3-3, D6S105-8, D6S464-9 and CS5-4 which is found on approximately 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 D6...Continue Reading

Citations

Sep 2, 1998·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·E C Jazwinska
Oct 1, 1996·Human Immunology·M Carrington, J Wade
May 24, 2003·Journal of Hepatology·J N FederA Basava
Dec 1, 1996·Human Immunology·M Carrington, J Wade
Jul 21, 2000·Tissue Antigens·A FoissacA Cambon-Thomsen
Sep 22, 2011·European Journal of Human Genetics : EJHG·Tero HiekkalinnaJoseph D Terwilliger
Aug 23, 2000·Genetic Testing·G Lucotte, G Mercier
Feb 14, 2009·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Melanie SchranzHeinz Zoller
Mar 1, 1997·Tissue Antigens·A FoissacA Cambon-Thomsen
Nov 20, 1998·Tissue Antigens·A Foissac, A Cambon-Thomsen
May 13, 1999·Immunological Reviews·M Carrington
Jan 1, 1997·Journal of Medical Genetics·C P VendittiM J Chorney
Feb 1, 1997·Journal of Medical Genetics·K J RobsonM Worwood
Mar 12, 1999·Annual Review of Medicine·L M CullenL W Powell
Sep 16, 1998·Proceedings of the National Academy of Sciences of the United States of America·C LonjouN E Morton
Mar 31, 2000·Pathology·L W Powell
Mar 26, 1999·American Journal of Human Genetics·J RochetteK J Robson
Aug 1, 1997·Blood Cells, Molecules & Diseases·E Beutler, C West
Mar 6, 1998·British Journal of Haematology·G S GerhardM J Chorney
Dec 16, 1998·Blood Cells, Molecules & Diseases·G Lucotte
Jan 1, 1996·DNA Sequence : the Journal of DNA Sequencing and Mapping·J Y Le Gall, F Galibert
Oct 27, 1999·Journal of Gastroenterology and Hepatology·M MortimoreL W Powell
Nov 1, 1996·Nature Genetics·A M JouanolleV David
May 2, 1998·Nutrition Reviews·J W Halliday
Aug 1, 1997·European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics·G K TayC S Witt
Jan 1, 1997·DNA Sequence : the Journal of DNA Sequencing and Mapping·D A RhodesJ Trowsdale
Dec 5, 1998·Annals of Clinical Biochemistry·R A SherwoodT J Peters

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