We examined dermatoglyphics of children in three Albanian and one Roma population sample (collected from 641 individuals from the Albanian populations and 226 individuals from the Roma population of both sexes). We compared Albanian and Roma populations based on four finger (whorl, radial and ulnar loop, and arch) and thirteen palmar traits (pattern frequencies in the Thenar/I interdigital area, II, III, and IV interdigital area, Hypothenar and axial »t« triradius position). The differences between the populations were more evident for palmar traits. In our study the Albanian and the Roma populations showed the best separation when finger and palmar traits are separately analyzed. As expected, the Albanian and the Roma populations separated in statistical analyses of most traits; the main reason for this is the different origins of two ethnic groups. The observed difference also indicates a low level of admixture between the Albanians and the Roma despite them living beside one another for several centuries.

Introduction: The process of protein synthesis is a vital process for all kingdoms of life. The ribosome is a ribonucleoprotein complex that reads the genetic code, from messenger RNA (mRNA) to produce proteins and to tightly regulate and ensure cells growth. The fact that numerous diseases are caused by defect during the ribosome biogenesis is important to understand this pathway. Materials and methods: We have analyzed the literature for ribosome biogenesis and its links with different diseases which have been found. Results and discussion: We have discussed the key aspect of human ribosome biogenesis and its links to diseases. We have also proposed the potential of applying this knowledge to the development of a ribosomal stress-based cancer therapy. Conclusion: Major challenges in the future will be to determine factors which play a pivotal role during ribosome biogenesis. Therefore, more anti-cancer drugs and gene therapy for genetic diseases will be developed against ribosomal biogenesis in the coming years. Graphical abstract:

Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.

Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. However, the exact molecular mechanism how protein degradation and storage leads to cellular dysfunction is not understood, yet. Nonetheless, several genetic and biochemical methods for diagnosis of MPSs are available nowadays. Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options.

Introduction: Conventional cytogenetics by the use of standard karyotyping allows the study of numerical and structural chromosomal aberrations. Haematological malignancies include a number of cancer types that originate in the blood cells of the bone marrow or of the lymphatic system. Cytogenetic methods are traditionally used for the sake of diagnosis and prognosis of these diseases. However, with the ever more frequent use of molecular methods in the diagnostic laboratories, the importance of the conventional cytogenetic analysis in the diagnosis of haematological diseases needs to be reassessed. Aim: To evaluate the role of cytogenetic methods in the diagnosis of haematological malignancies. Materials and Methods: A retrospective analysis of cytogenetic findings of 146 patients with various haematological malignancies was performed. All of the findings were made over a period of three years at the Centre for Genetics at the Medical Faculty of the University of Sarajevo in Bosnia and Herzegovina. Microsoft Excel 2019 was used for the analysis and presentation of data in the form of tables and graphs. Results: The results of the present study showed that the use of conventional cytogenetic analysis is a good diagnostic method for 50.68% (74) of patients in whom chromosomal aberrations were detected. Conclusion: Cytogenetics remains the most comprehensive method for assessing chromosomal abnormalities due to its ability to detect clinically relevant aneuploidies and additional cytogenetic abnormalities that cannot be detected by locus-specific assays.

of the age group of 6–12 years, and 10 patients of the age group of 12–18 years. Conclusions: Data suggest that pediatric cases of COVID-19 in adolescents have more severe symptoms than in the other age groups; however, in general children tend to cope much more easily with the virus than adults.

Rheumatoid arthritis is a polygenic disease of unknown etiology, occurs worldwide in both developed and underdeveloped countries and involves all races. The aim of this study is to determine the correlation between hematological parameters (DBC and ESR) and biomarkers of inflammation (CRP) in patients with RA predisposing gene variants HLA-DRB1*04 or HLA-DRB1*03. This study analyzed the results of hematological and biochemical parameters of 33 patients diagnosed with RA, carriers ofgene variants of HLA-DRB1*04 or HLA-DRB1*03, and 33 subjects of control group non-carriers for HLA-DRB1*04 or HLA-DRB1*03. All hematological parameters (DBC) were analyzed on a Beckman Coulter DxH 800 hematology counter. The erythrocyte sedimentation rate was expressed in mm/h. The CRP biochemical test was performed on a Cobas c311 automatic analyzer. In group of RA patients carriers of HLA-DRB1*04 or HLA-DRB1*03 gene variants, the values of HGB and HCTwere significantlylower(p < 0.05) while the values of RDW, RDW-SD, MO, BA, MO#, BA#, ESR and CRP were statistically increased (p < 0.05) from the control group without these variants.

Introduction: Genetic polymorphism is associated with individual responses to medication and susceptibility to diseases, and it represents the basis for individualized medical treatment and drug genomics studies. Genetic variation at CYP2D6 is high, both among populations and among individuals in the same population. Aim: The aim of the study was to investigate the CYP2D6 gene duplication and the non-synonymous single-nucleotide polymorphisms (SNP) 100C>T in the CYP2D6 gene in members of the Bosnian population. Material and Methods: The blood samples were collected from 151 unrelated and healthy donors from Bosnian populations consisted of 94 females and 57 males. Duplex long-range PCR was used to determine whether individuals carrying CYP2D6 gene duplication. The resulting PCR product of 5.1 kb, containing all nine CYP2D6 exons, was used as template for detection of the CYP2D6 100C>T allele by nested PCR. Results: The CYP2D6 gene duplication frequency found in the Bosnian population (2.73%) was related to the frequencies of this allele in other Caucasians. The gene duplication is the result of inheritance of more than two copies of the fully functional CYP2D6 alleles. In contrast, the frequency of the CYP2D6 100C>T variant, with possibly damaging function, in the Bosnian population (15.56%) was significantly higher when compared with the other Caucasians but significantly lower when compared with Asians. Conclusion: CYP2D6 metabolizes many commonly prescribed drugs. Variations in the gene encoding this enzyme have been associated with individual differences in drug metabolism rates. The individuals with multiple CYP2D6 gene copies metabolize drugs more rapidly and therapeutic plasma levels will not be achieved at ordinary drug dosages. The non-synonymous coding SNP (100C>T) were predicted to have damaging effects on the protein function.

Background: The gene for 5,10-methylenetetrahydrofolate reductase (NAD(P)H) or MTHFR gene encodes protein methylenetetrahydrofolate reductase (MTHFR), an enzyme important in folate metabolism. Aim: The aim of this study was to determine the frequencies of 677C>T and 1298A>C polymorphisms in the MTHFR gene of healthy subjects from the population. Material and methods: The blood samples were collected from 164 unrelated and healthy donors from population consisted of 98 females and 66 males. Both the MTHFR 677C>T and 1298A>C single nucleotide polymorphisms (SNPs) were analyzed by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Linkage disequilibrium (LD) between pair of SNPs was calculated through Haploview analysis. Results: The frequency of MTHFR 677T allele in the population (32.62%) was in agreement with the frequency of this allele in most other populations, however, the frequency of MTHFR 1298C allele (38.41%) was higher than that reported for most other populations in the world. Haploview analysis showed a relatively strong LD between 677C>T and 1298A>C SNPs with D′ values of 0.87. Conclusion: Regarding the two MTHFR polymorphisms, three of the nine combined genotypes were present in 87.2% of the population. 33.54% subjects were complex heterozygous (677CT/1298AC genotype), 34.15% subjects had 677CC/1298AC and 19.51% of 677CT/1298AA genotype. The subjects with 677TT genotype had a 1298AA or 1298AC genotype while subjects with 1298CC genotype had only 677CC genotype. The subjects with 677CC/1298AA genotype were only 3.05%. We were not found triple 677CT/1298CC and quadruple 677TT/1298CC mutation suggesting decreased viability of embryos with increased numbers of mutant alleles.