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New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105

Raha-Chowdhury, Ruma, Bowen, Derrick John, Stone, Caroline, Pointon, Jennifer J., Terwilliger, Joseph D., Shearman, Jeremy D., Robson, Kathryn J. H., Bomford, Adrian and Worwood, Mark 1995. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Human Molecular Genetics 4 (10) , pp. 1869-1874. 10.1093/hmg/4.10.1869

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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 D6S105 and close to CS5.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Publisher: Oxford University Press
ISSN: 0964-6906
Last Modified: 04 Jun 2017 06:19

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