Molecular-genetic analyses of the hemochromatosis gene in Bosnian and Herzegovinian population

Amela, Hercegovac, Nataša, Teran, Rifet, Terzić, Borut, Peterlin

Glasnik Antropološkog društva Srbije

43

82

86

1820-7936

https://scindeks.ceon.rs/article.aspx?query=ISSID%26and%266083&page=0&so...

2008-2021/11/01/12:51:44

Hereditary hemochromatosis (HH) is an autosomal recessive disorder which is characterized by sistemic iron overload due to enhanced iron absorption in the small bowel. The most prevalent form of HH results from mutations ih HFE gene. HFE gene is located on chromosome 6 in close proximity to the HLA - A locus. Two most frequent missense mutations were identified in HFE gene, namely a G to A transition at nucleotide 845 which leads to a substitution of cystein for tyrosine at the amino acid position 282 (C282Y) and a C to G change at nucleotide 187 that result in a substitution of histidine for aspartate at the amino acid position 63 (H63D). The study population included two hundred (100 males and 100 females) unrelated healthy individuals from Bosnia and Herzegovina. Genomic DNA was extracted from peripheral blood leukocytes using the standard procedure. HFE mutation analysis was performed using PCR-RFLP methods. C282Y mutation was detected in 9 individuals and all of them were heterozygous. H63D mutation was found in 40 idividuals, 6 of them were homozygous. One compound heterozygous H63D/C282Y was identified. The observed C282Y allele frequency in Bosnian and Herzegovinian population was 2.25%; the frequency of the H63D allele was 11.5%. .