Author/Editor		Makuc, Jana
Title		Analiza mutacij gena za hemokromatozo v slovenski populaciji
Translated title		Mutation analysis of the hemochromatosis gene in the Slovenian population
Type		monografija
Place		Ljubljana
Publisher		Biotehniška fakulteta
Publication year		2001
Volume		str. 42
Language		slo
Abstract		Hereditary hemochromatosis (HH) is a disorder of iron metabolism, which-due to inappropriately high iron absorption-leads to accumulation of excess iron. The desease usually remains undetected until clinical manifestations, when irreversable damage has already occured (cirrhosis, diabetes mellitus, cardiomyopathy, hipogonadism and hepatocellular carcinoma). HH is common among populations of northern European origin with the prevalence of 1/300. The most prevalent form of HH results from HFE mutations. The main mutations responsible for HH are C282Y and H63D; other mutations are rare. We performed genetic testing of the general population in Slovenia for C282Y and H63D mutations using PCR and restriction endonucleases. Of the 201 randomly selected individuals 15 carried the C282Y variant (3,98% of the chromosomes). 1 of them was homozygous and 5 were compound heterozygous. H63D variant was found in 50 individuals (14,43% of the chromosomes), 8 of which were homozygous. We have also analysed a sample of 6 probands. The frequencies of C282Y and H63D variants found in the general population were similar than in most middle European populations and similar to the European average. The sample of probands was not big enough to make conclusions about frequencies of the C282Y and H63D variants in Slovenian probands. It is necessary to analyse general population for other known mutations. It is also necessary to analyse a bigger sample of probands and to analyse them for other mutations.
Descriptors		HEMOCHROMATOSIS MUTATION ALLELES BASE SEQUENCE POLYMERASE CHAIN REACTION SLOVENIA