Iveta Boronova

Y-SNP analysis versus Y-haplogroup predictor in the Slovak population.

Human Y-chromosome haplogroups are important markers used mainly in population genetic studies. The haplogroups are defined by several SNPs according to the phylogeny and international nomenclature. The alternative method to estimate the Y-chromosome haplogroups is to predict Y-chromosome haplotypes from a set of Y-STR markers using software for Y-haplogroup prediction. The purpose of this study was to compare the accuracy of three types of Y-haplogroup prediction software and to determine the structure of Slovak population revealed by the Y-chromosome haplogroups. We used a sample of 166 Slovak males in which 12 Y-STR markers were genotyped in our previous study. These results were analyzed by three different software products that predict Y-haplogroups. To estimate the accuracy of these prediction software, Y-haplogroups were determined in the same sample by genotyping Y-chromosome SNPs. Haplogroups were correctly predicted in 98.80% (Whit Atheys Haplogroup Predictor), 97.59% (Jim Cullens Haplogroup Predictor) and 98.19% (YPredictor by Vadim Urasin 1.5.0) of individuals. The occurrence of errors in Y-chromosome haplogroup prediction suggests that the validation using SNP analysis is appropriate when high accuracy is required. The results of SNP based haplotype determination indicate that 39.15% of the Slovak population belongs to R1a-M198 lineage, which is one of the main European lineages.

Comparison of Y-STR polymorphisms in three different Slovak population groups

Eleven Y-chromosomal microsatellite loci included in the Powerplex Y multiplex kit were analyzed in different Slovak population samples: Habans (n = 39), Romanies (n = 100) and Slovak Caucasian (n = 148) individuals, respectively, from different regions of Slovakia. The analysis of molecular variance between populations indicated that 89.27% of the haplotypic variations were found within populations and only 10.72% between populations (Fst = 0.1027; p = 0.0000). The haplotype diversities were ranging from 0.9258 to 0.9978, and indicated a high potential for differentiating between male individuals. The study reports differences in allele frequencies between the Romanies, Habans and Slovak Caucasian men. Selected loci showed that both the Romany and Haban population belonged to endogamous and relatively small founder population groups, which developed in relatively reproductive isolated groups surrounded by the Slovak Caucasian population.

Heterochromatin Variants in Slovak Women with Reproductive Failure

Abstract Various studies have reported a higher incidence of heterochromatin variants among individuals with idiopathic reproductive failure. The aim of the present study was to assess the frequency of chromosomal heteromorphisms in 948 women with history of reproductive failure and 478 controls in the Presov region (Slovakia) (1998-2013) using G-banding and C-banding cytogenetic techniques. In 95 individuals (10.02%) with reproductive failure heterochromatin variants of chromosomes 1, 9, 16 and Y were detected. In the control group, there were 15 (3.15%) heterochromatin variants. The most frequent heterochromatin variants in the reproductive failure group were heterochromatin variants within chromosome 9 (9qh+/9qh-/inv(9)). The overall incidence of heterochromatin variants in women with reproductive failure was higher than in controls (p<0.0001; 95% CI 1.971-5.996). The results of the study confirmed the higher occurrence of chromosome anomalies in Slovak women with reproductive failure that absolutely reasons indication of cytogenetic examination.

Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients

Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non‐sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients.

Analysis of selected genes associated with cardiomyopathy by next-generation sequencing

As the leading cause of congestive heart failure, cardiomyopathy represents a heterogenous group of heart muscle disorders. Despite considerable progress being made in the genetic diagnosis of cardiomyopathy by detection of the mutations in the most prevalent cardiomyopathy genes, the cause remains unsolved in many patients. High‐throughput mutation screening in the disease genes for cardiomyopathy is now possible because of using target enrichment followed by next‐generation sequencing. The aim of the study was to analyze a panel of genes associated with dilated or hypertrophic cardiomyopathy based on previously published results in order to identify the subjects at risk.

Cytogenetic Abnormalities in Infertile Men in the Prešov Region (Slovakia)

Abstract Chromosome anomalies belong to genetic factors, which participate on etiology of reproductive failure. The aim of the study was to investigate the frequency of chromosome abnormalities in infertile men in the Presov region in Slovakia (1998-2014). Karyotyping using G-banding and C-banding methods was performed in 1426 subjects including 948 infertile men and 478 controls. Karyotype analyses revealed chromosomal abnormalities in 2.6 percent of infertile men. Detected frequency of sex chromosome abnormalities in men with diagnosed azoospermia was 11.5 percent compared with 1.0 percent of chromosome abnormalities in men with severe oligospermia (p<0.01). Heterochromatin variants were identified in 13 percent of infertile men. Detected frequency of heterochromatin variants of infertile men was significantly higher than in controls (p<0.0001). The results of the study might suggest the role of chromosome anomalies in human fertility. All these findings support genetic screening of infertile men before starting assisted reproductive treatments.