Introduction: Since 1956 karyotype analysis becomes an essential part of routine medical diagnostics, and helped medical professionals investigate the origin of genetic abnormalities in many constitutional and cancer diseases. Karyotyping also provided more information in the monitoring of fertility problems. An inversion does not usually have a phenotypic effect, especially if it involves a heterochromatin area, such as 9qh. Chromosome 9 polymorphism, with breakpoints p11q13/p12q13, can be the cause of variant abnormal clinical conditions such as congenital abnormalities, hematological diseasesand also could have a connection with pregnancy loss and fertility failure. Methods: A retrospective study was conducted on 1784 cytogenetics examination results from peripheral blood samples in the period from January, 2012 to December, 2022. The patients, carriers inv(9) in their karyotype were highlighted for detailed analysis. Results: Among the 1784 patients, constitutional pericentric inversion inv(9)(p11q13) was found in 13 females (0,72%), while it was seen in 17 cases of males (0.95%). The total average amount of inv (9) in this study is 1.68%. The inv(9) population consists of 60% cases with infertility problems, 6,66% females who had spontaneous abortus and 33,33% were patientsreferred to our laboratory for other reasons. Conclusion: In this research, the prevalence of inv (9) in the population of patients of Northeast Bosnia and Herzegovina who had the reproductive failure is shown. We believe that these results will help in finding the key to the truth about the association of this chromosome polymorphism with some pathological conditions such as fertility problems.

Tartrazine (E 102) is widely used yellow food colorant. It is used in nonalcoholic and sports drinks, spicy chips, jams, jelly and chewing gum and also found in many non-food products like soaps, cosmetics, shampoo, vitamins and some drugs. Tartrazine belongs to the most important and diverse group of synthetic dyes – azo dyes. Their use often creates controversies in the public since some of them are toxic, carcinogenic, mutagenic and cause different disorders or allergic reactions. In this study we aimed to evaluate genotoxic potential of tartrazine in human lymphocytes culture and its cytotoxic potential in human lymphocytes and melanoma GR-M cell line. For testing of its genotoxic and cytotoxic potential in human lymphocyte culture, we used chromosome aberration analysis and cytokinesis-block micronucleus cytome assay. For the analysis of its cytotoxic potential in human melanoma cell culture, we applied trypan blue exclusion assay.

Introduction: Prenatal diagnostic is a diagnostic method which is used to prove the presence of chromosome changes, a large number of metabolic disorders and other morphological fetus abnormalities. Prenatal genetic testing mostly refers to the molecular genetic and cytogenetic methods used during pregnancy to diagnose genetic fetal conditions. Aim: To investigate the existence and incidence of cytogenetics abnormalities in fetuses. Material and Methods: The retrospective research is based on cytogenetic analysis of the 1510 amniotic fluid samples collected from pregnant women sent to the cytogenetic laboratory from January, 2012 to December, 2022. Results: The karyotype without visible structural and numerical changes was detected in 96.8% (1462/1510) cases. The fetal karyotype was abnormal in 3.2 % (48/1510) of the cases. Trisomy 21 was the most frequent chromosome aberration detected in 1.12% (17/1510) cases followed by pericentric inversion 9 (10/1510; 0.66%) and trisomy 18 (4/1510; 0.26%). Mosaics were detected in five cases (5/1510; 0.33%). Comparing the prevalence of chromosome abnormalities according to maternal age, we come to know the prevalence of chromosome aberrations in the group of females above age 35 (26/790; 17.2/1000) is higher than in the group of females under age 25 (7/95; 4.63/1000), but not significantly different (P= 0.09). Conclusion: Conventional cytogenetics maintains its role as a powerful diagnostic tool in detecting chromosomal changes during prenatal screening.

Introduction: Besides cardiovascular, malignant diseases are one of the leading causes of death in Bosnia and Herzegovina. At the top of this list are hematological diseases. This research aimed to identify cytogenetic and molecular biomarkers in patients treated for different types of hematological neoplasms. Methods: The retrospective study included 1600 samples of patients with different hematological diseases in the period from January 2006 to May 2022. The Polymerase Chain Reaction (RT-PCR) method was used to determine the presence of genetic rearrangements and to confirm the findings of conventional cytogenetic analysis. Results: Chromosomal aberrations were found in 739 (46,18%) patients. Using the RT-PCR technique, positive cases were increased by 1,5%. The BCR-ABL fusion gene was present in e14-a2 transcript form in 73% of samples, e13-a2 isoform in 21%, e1-a2 in 2%, while e14-a2/e1-a2 transcript coexpression was present in a percentage of 4% of the samples. The PML-RARa fusion gene was found in the form of bcr 1 transcripts in 21%, bcr2 32% and bcr3 59% of the samples. In twelve cases A type of the CBFB-MYH11 fusion transcript was detected. The MLL-AF4 fusion was found in only one case. Conclusion: The obtained percentages of frequency of individual molecular gene isoforms are in accordance with the results of most other researchers. This refers to the Balkan population and the Caucasian ethnic group.