Haemochromatosis mutation analysis in a normal Irish population.

Citation data:

British journal of biomedical science, ISSN: 0967-4845, Vol: 57, Issue: 4, Page: 315-6

Publication Year:
2000
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Repository URL:
http://arrow.dit.ie/scschbioart/46
PMID:
11204863
Author(s):
Ryan, Fergus; Vaughan, Joseph
Publisher(s):
Dublin Institute of Technology
Tags:
Medicine; Immunology and Microbiology; Biochemistry, Genetics and Molecular Biology; Haemochromatosis; Irish; population; mutation analysis; Genetics and heredity; Genetics; Molecular Genetics
article description
187 Irish blood donors were examined for the presence of C282Y and H63D missense mutations using a multiplex PCR and restriction digest protocol. The allele frequency for C282Y was found to be 12.3% which is higher than reported in other studies and concurs that this mutation is of Celtic origin.