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Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype

Worwood, Mark, Raha-Chowdhury, Ruma, Dorak, M. Tevfik, Darke, C., Bowen, Derrick John and Burnett, Alan Kenneth 1994. Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype. British Journal of Haematology 86 (4) , pp. 863-866. 10.1111/j.1365-2141.1994.tb04843.x

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Hereditary haemochromatosis is an HLA-linked, recessive disorder with HLA-A3 a strong marker for the gene. We have identified molecular markers for two serologically indistinguishable subtypes of HLA-A3 and examined these in 42 patients with haemochromatosis. The common HLA-A3 subtype HLA-A* 0301 (highly correlated with allele 1 of D6S265) was a slightly better marker for haemochromatosis (RR = 10.1, Chi2= 30) than the serologically recognized A3 antigen (RR = 9.1; Chi2 27.3). Allele 8 of the more telomeric locus D6S105 was also strongly associated with haemochromatosis (RR = 13.0; Chi2= 21.1) but alleles at this locus were not in strong linkage disequilibrium with HLA-A alleles in the control subjects. The co-occurrence of D6S265–1 and D6S105–8 alleles yielded a higher risk (RR = 16.9; Chi2= 44). Homozygosity for the haplotype including these markers was specific for haemochromatosis, i.e. did not occur in 376 healthy subjects but was observed in 21.4% of patients. These results refine the HLA-A3 association with haemochromatosis, suggest that the haemochromatosis gene is located on the telomeric side of HLA-A and define a possible haplotype in which the first mutation may have occurred.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Uncontrolled Keywords: haemochromatosis; microsatellite markers; HLA class I region; genotype
Publisher: Wiley-Blackwell
ISSN: 0007-1048
Last Modified: 18 Jan 2018 19:26

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