Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina.

Genetic epidemiology studies of hereditary hemochromatosis (HHC) have shown a high prevalence of the C282Y mutation in individuals of the North Western European origin, whereas lower prevalence of HFE gene mutations was detected in the populations from southern European countries. However, no HFE mutation prevalence data have been provided for the population of Bosnia-Herzegovina so far. Therefore, the aim of this study was to determine the frequency of the C282Y and H63D HFE gene mutations in the population of Bosnia-Herzegovina. Among 200 analysed subjects 8 (4%) were C282Y heterozygotes; no C282Y homozygotes were found. The frequency of the H63D allele was 11.5%. There were 33 (16.5%) heterozygotes and 6 (3%) homozygotes for the H63D mutation. One (0.5%) compound heterozygote C282Y/H63D was identified. The observed C282Y and H63D allele frequency was 2.25% (95% confidence interval: 1.2-4.2) and 11.5% (95% confidence interval: 8.7-14.9), respectively. The prevalence of the C282Y and H63D mutations was estimated in Bosnia-Herzegovina, which fit well in the European northwest-to-southeast gradient of the C282Y mutation distribution. In addition, these results have an important implication for clinical evaluation of HHC in Bosnia-Herzegovina.

Copy number of DAZ genes in Slovenian and Bosnian general population.

Deletions of two of four DAZ (Deleted in AZoospermia) gene copies located on the Y chromosome were associated with spermatogenic failure, but the information on DAZ copy number is still very scarce. The aim of this study was to determine the frequency of partial DAZ gene deletions and to analyze the existence of duplications in general Slovenian and Bosnian population. To answer these questions, we used real time PCR. We analyzed 100 male samples from Slovenian and Bosnian general population. The incidence of two DAZ gene copies was 6% (3/50) in Slovenian population. The incidence of more than four DAZ genes was 2% (1/50) in Slovenian population and 8% (4/50) in Bosnian population. Observed differences have not reached statistical significance. In conclusion we demonstrate that DAZ genes are not only prone to deletions but also to duplication events. Further studies are needed to estimate the prevalence of these mutations and its' relevance to male infertility.

Insertion/deletion polymorphism of angiotensin-converting enzyme gene--risk factor for coronary artery disease in the Tuzla region population (Bosnia and Herzegovina).

Angiotensin II is the major effector molecule of renin-angiotensin system; its production can be conveniently interrupted by angiotensin-converting enzyme (ACE). Typical plasma levels of ACE accompany the I/D polymorphism; however, a controversy exists as to whether the DD genotype of the ACE polymorphism affects the risk for the development of coronary artery disease (CAD) and to what extent the ACE polymorphism is associated with CAD in different populations. We compared the I/D polymorphism in 212 CAD patients younger than 50 years with 165 healthy control individuals. They were all from the Tuzla region in Bosnia and Herzegovina. Patients with CAD had a higher prevalence of the DD genotype (36.3%) than controls (25.6%). The odds ratio for the ACE DD genotype in CAD patients was 1.7 (95% confidence interval 1.0-2.7; p < 0.05). We may conclude that the D/D genotype of the ACE gene polymorphism is associated with an increased risk for CAD in the Bosnian population.

[The DNA test in the diagnosis of Huntington disease]. / Primjena DNA testa u dijagnostici Huntingtonove bolesti.

Huntington's disease is the most prominent basal ganglion disease. Huntington's gene, IT15, in chromosome 4p16.3, has 67 axons with 10,366 bp coding space and unstable CAG sequence that codes glutamine on 5' terminal. The molecular-genetic analysis of disease determined expansion of nucleotide repeated CAG sequences. In large Bosnian family with Huntington's disease specific DNA diagnosis of IT15 gene mutation is performed, according the wishes of one female member with "high genetic risk", that voluntarily accessed to DNA test in order to make plans for her own family "without risk" of pathologic gene transmission. A mutation in IT15 gene (number of CAG tandem repeats 46, size of DNA fragment 165 bp and 245 bp) is detected in DNA of her clinically affected brother. But, results of PCR analysis of her DNA sample showed 23 CAG tandem repeats (fragment size 180 bp) that excluded presence of Huntington's disease. We accentuate importance of DNA test in persons with "genetic risk", that are not gene carriers. In that case there are able to create own future without fear of pathological gene transmission.