The frequency of the haemochromatosis-associated genotype D6S265-1:D6S105-8 in blood donors

Worwood, M., Dorak, M.T., Nicklin, S. , Stone, C., Pointon, J. and Darke, C. (1996) The frequency of the haemochromatosis-associated genotype D6S265-1:D6S105-8 in blood donors. British Journal of Haematology, 93(4), pp. 838-840. (doi:10.1046/j.1365-2141.1996.d01-1732.x) (PMID:8703814)

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Homozygosity for HLA-A3 and the microsatellite markers D6S265 allele 1 and D6S105 allele 8 is associated with a high relative risk for genetic haemochromatosis — indeed we and others have suggested that a haplotype including D6S265-1, HLA-A3 and D6S105-8 is specific for haemochromatosis. To determine the frequency of this haplotype and examine its specificity for haemochromatosis we have analysed data from 7820 blood donors from South Wales. The frequency of homozygosity for D6S265-1, HLA-A3 and D6S105-8 was 1 in 280. Calculations based on the prevalence of haemochromatosis suggest that about 50% of chromosomes carrying D6S265-1:HLA-A3:D6S105-8 also carry the haemochromatosis gene. This information is of value for assessing the risk that the partner of a patient with haemochromatosis also carries the haemochromatosis gene.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Nicklin, Professor Stuart
Authors: Worwood, M., Dorak, M.T., Nicklin, S., Stone, C., Pointon, J., and Darke, C.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cardiovascular and Medical Sciences
Journal Name:British Journal of Haematology
ISSN (Online):1365-2141
Published Online:02 October 2003

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