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Objectives: To clarify the connection between two selected mononucleotide polymorphisms (rs4957014 and rs3756712) in programmed cell death gene 6 (PDCD6) and endometriosis development risk in patients belonging to the majority population of Slovakia., Methods: From all women involved in the research a buccal DNA sample was taken. A genetic analysis of selected polymorphisms was implemented using Real-time PCR method. Variance in allelic and genotype frequencies was statistically evaluated between the controlgroup and the group of patients., Results: The analysed group consisted of 52 women suffering from endometriosis and the control group of 63 women. Variant G allele frequency in the group of patients in case of polymorphism rs3756712 had a value of 0.42 and in the control group 0.29; that represents its statistically and significantly higher occurrence in the group of patients suffering from endometriosis (p = 0.029 and OR = 1.833). Presence of G allele is related to almost 1.9 times higher risk of endometriosis development., Conclusion: Achieved results show that polymorphism rs3756712 is significantly associated with the risk of endometriosis development in Slovak women. Polymorphism rs4957014 did not show any connection with development of endometriosis (Tab. 5, Ref. 10).

Philadelphia chromosome (Ph) is a characteristic chromosomal marker that is associated with chronic myelogenous leukemia (CML). Philadelphia chromosome in bone marrow cells in patients with suspected diagnosis of CML in the Presov region (1995-2004) was detected in 94.4 % of cases. In one patient a complex translocation involving the chromosomes 8, 9 and 22 was identified. One patient has showed extra numerical and structural chromosomal aberrations. The mosaic karyotype of Ph chromosome was found in 5.9 % of cases. The conventional cytogenetic analysis remains the standard method for the purpose of diagnosis and monitoring of the therapeutic response and minimal residual disease in patients with chronic myeloid leukemia (Tab. 1, Fig. 1, Ref. 18). Full Text (Free, PDF) www.bmj.sk.

Prenatal genetic diagnostics is a part of prenatal care. Prenatal karyotyping is used to identify major genetic and congenital abnormalities in a developing fetus. In the Presov region (Slovakia) in 1999-2004 370 amniotic fluid samples were analysed by G-banding. Abnormal karyotypes were detected in 3.8% of samples. A karyotype using classical banding methods is the only fully informative method able to detect all chromosomal abnormalities. Identification of fetal abnormal chromosomes in high risk pregnancies allows proper pediatric and obstetric managment of the cases as well as genetic counselling (Tab. 1, Fig. 2, Ref. 5).