SCREENING FOR THE HAEMOCHROMATOSIS ASSOCIATED C282Y GENE MUTATION IN THE ISRAELI JEWISH POPULATION. S. Israel, (1), K. Morag (2), C. Brautbar(1,2), 1-Tissue Typing Unit, Hadassah Hospital, 2-The Lautenberg Center for General and Tumor Immunology, Hadassah

SCREENING FOR THE HAEMOCHROMATOSIS ASSOCIATED C282Y GENE MUTATION IN THE ISRAELI JEWISH POPULATION.
S. Israel, (1), K. Morag (2), C. Brautbar(1,2), 1-Tissue Typing Unit, Hadassah Hospital, 2-The Lautenberg Center for General and Tumor Immunology, Hadassah Medical School, Hebrew University, Jerusalem, Israel.

Hereditary hemochromatosis (HH) is an iron storage disease that results in iron accumulation in the liver, heart, pancreas and other organs. A candidate disease gene HFE has been identified as a novel MHC, class I-like gene, in which a substitution of cystein to tyrosin (C282Y) is strongly associated with the disease. Close to 90% of HH cases of north European origin were found to be homozygous to the C282Y mutation. We have analyzed the distribution of the C282Y mutation in the Israeli population using the PCR-SSOP method and obtained the following results:

Origin of chromosomes	Number of chromosomes examined	% carrying the C282Y mutation
Randomly selected Ashkenazi Jews	204	0.5
Randomly selected non-Ashkenazi Jews	252	0.79
Ashkenazi Jews carrying the known HH associated haplotype according to HLA typing
A03 B14	73	29
A03 B07	62	2.5
A29 B44	72	1.3
A03 and all B alleles except B14 or B07	55	0

Conclusion: The frequency of the mutation in the Israeli population is low: 0.5% in Ashkenazi Jews and 0.79% in non-Ashkenazi Jews. The C282Y mutation is found mainly on the A03 B14 haplotype. This haplotype was found to be the main HH associated haplotype in the Irish population, and was found in our study in the Ashkenazi Jews.