Browsing by Author "Bunjevacki, V. (6506110754)"

The aim of this study was to detect the loss of putative tumor suppressor genes (TSG) mapping on chromosome 11 in a series of 15 cervical carcinomas. Highly polymorphic microsatellite markers mapping on the selected regions on 11p (11p12 and 11p15.2), and 11q (11q13 and 11q23) were amplified by PCR and used to detect the loss of heterozygosity in our sample. All the tumors were squamous cell carcinomas with various degrees of differentiation. We found that 3 out of 15 cases showed LOH of at least one microsatellite locus on chromosome 11p. LOH on chromosome 11q occurred in 4 samples. All the tumors except one were histologic grade 2, but had heterogeneous clinical stages. The overall incidence of LOH on 11p and 11q in our sample was 18,5% and 29%, respectively. These results might suggest the presence of new tumor suppressor genes (except the well-known WT1) within these chromosomal regions as well as their involvement in cervical carcinogenesis.

The aim of this study was to detect the loss of putative tumor suppressor genes (TSG) mapping on chromosome 11 in a series of 15 cervical carcinomas. Highly polymorphic microsatellite markers mapping on the selected regions on 11p (11p12 and 11p15.2), and 11q (11q13 and 11q23) were amplified by PCR and used to detect the loss of heterozygosity in our sample. All the tumors were squamous cell carcinomas with various degrees of differentiation. We found that 3 out of 15 cases showed LOH of at least one microsatellite locus on chromosome 11p. LOH on chromosome 11q occurred in 4 samples. All the tumors except one were histologic grade 2, but had heterogeneous clinical stages. The overall incidence of LOH on 11p and 11q in our sample was 18,5% and 29%, respectively. These results might suggest the presence of new tumor suppressor genes (except the well-known WT1) within these chromosomal regions as well as their involvement in cervical carcinogenesis.

The aim of this study was to detect frequency of microdeletions of Y chromosome in idiopathic cases of male infertility in Serbian population. Patients were subjected to detailed clinical, endocrinological and cytogenetic examinations. Ninety patients with normal cytogenetic findings with azoospermia and severe oligozoospermia were included in the study. In these patients microdeletion analysis was performed by multiplex polymerase chain reaction (PCR) method on DNA extracted from peripheral blood. In each case 6 markers in azoospermia factor (AZF) regions were tested: sY84, sY86 (AZFa); sY127, sY134 (AZFb); sY254, sY255 (AZFc). Deletions on Y chromosome were detected in 14 of 90 cases (15.6%), 9 with azoospermia and 5 with severe oligozoospermia. Of total number of 17 deletions, 11 (64.7%) were detected in AZFc region, 3 (17.6%) in AZFa region and 3 (17.6%) in AZFb region. Microdeletions in AZF region of Y chromosome, especially AZFc microdeletions, represent common genetic cause of idiopathic azoospermia and severe oligozoospremia in Serbian infertile men. Therefore, testing for Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counseling of infertile men in Serbia and decisions regarding the assisted reproduction should be made based on the presence and type of AZF microdeletions.

The primary myelodysplastic syndrome (MDS) is a heterogeneous group of disorders characterized by a failure of the hematopoietic progenitors to differentiate normally, resulting in ineffective and dysplastic hematopoiesis of one or more cell lines. MDS is considered to be preleukemic state and in this context, it provides an opportunity to study molecular mechanisms that precede the development of leukemia. Molecular lesions underlying the evolution of MDS are largely unknown. Mutations of RAS genes have been found in variety of human hematologic malignancies including 5% to 30% of patients with MDS. The ras family of genes encodes 21-Kd guanosine triphosphate (GTP) - binding proteins that play an important role in growth and differentiation signal transduction. Usually, the mutations occur in codon 12, 13 and 61 of the exon I. These three positions are related to the domain of GTP-ase activity and if one of these suffer from mutation, activity of GTP-ase will be affected. The frequency of K-RAS point mutation was studied in 20 pediatric patients with MDs. Archival bone-marrow samples were screened by DNA amplification followed by single-strand conformation polymorphism (SSCP) at codon 12/13 and 61 of K-RAS exon I. No mutations of K-RAS gene were observed in our study suggesting that frequency of K-RAS mutation in childhood primary MDS may be lower than that for adults and that its role in leukemogenesis in primary and secondary MDS is different.

The primary myelodysplastic syndrome (MDS) is a heterogeneous group of disorders characterized by a failure of the hematopoietic progenitors to differentiate normally, resulting in ineffective and dysplastic hematopoiesis of one or more cell lines. MDS is considered to be preleukemic state and in this context, it provides an opportunity to study molecular mechanisms that precede the development of leukemia. Molecular lesions underlying the evolution of MDS are largely unknown. Mutations of RAS genes have been found in variety of human hematologic malignancies including 5% to 30% of patients with MDS. The ras family of genes encodes 21-Kd guanosine triphosphate (GTP) - binding proteins that play an important role in growth and differentiation signal transduction. Usually, the mutations occur in codon 12, 13 and 61 of the exon I. These three positions are related to the domain of GTP-ase activity and if one of these suffer from mutation, activity of GTP-ase will be affected. The frequency of K-RAS point mutation was studied in 20 pediatric patients with MDs. Archival bone-marrow samples were screened by DNA amplification followed by single-strand conformation polymorphism (SSCP) at codon 12/13 and 61 of K-RAS exon I. No mutations of K-RAS gene were observed in our study suggesting that frequency of K-RAS mutation in childhood primary MDS may be lower than that for adults and that its role in leukemogenesis in primary and secondary MDS is different.

Aim: The aim of this study was to determine the prevalence and type of microdeletions of the Y chromosome of men with severe oligozoospermia-ICSI candidates in the Serbian population and to compare our findings with those from other parts of the world. Methods: In all patients spermiogram has been performed in order to determine the sperm concentration. Patients were subjected to detailed clinical, endocrinological and cytogenetic examinations. Microdeletion analysis was performed by polymerase chain reaction (PCR) on 203 patients with normal cytogenetic findings. The STS markers tested in each case were sY84, sY86 (AZFa); SY127, sY134 (AZFb); sY254, sY255 (AZFc). Results: at least one of the STS markers was deleted in 11 of the 203 cases (5.4 %). Conclusion: AZFc microdeletions were identified with a rather high prevalence in men with severe oligozoospermia ICSI candidates in Serbian population.