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:
- Medicine; Immunology and Microbiology; Biochemistry, Genetics and Molecular Biology; Haemochromatosis; Irish; population; mutation analysis; Genetics and heredity; Genetics; Molecular Genetics
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.