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Institute of molecular biology and genetics NAS of Ukraine, Kyiv; 150 Zabolotnogo str., Kyiv, 03680, Ukraine olga_fesay@ukr.netAnalysis of microdeletions on the long arm of the human Y chromosome, that are associated with spermatogenic failure, allowed us to define three regions of Yq (AZFa, AZFb and AZFc) recurrently deleted in infertile males. Microdeletions were detected in 16 of total 355 (4,5%) infertile men. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which also involved in male infertility, were detected in 22 out of 355 analyzed infertile men. The most common mutation was F508del (17 of total 22 mutations). 5T allele of CFTR gene associated with congenital bilateral absence of the vas deferens was detected in 16 of total 355 (4,5%) patients. Molecular-genetic analysis of the Y-chromosome microdeletions and CFTR gene mutations as well as genetic counseling are necessary conditions for the diagnostics of patients with male infertility, especially if they are involved in an assisted reproductive technology program.

Aim. To study the IVS8-5T allele of the CFTR gene and it is involvement in spermatogenesis failure in men with azoospermia and oligozoospermia. Methods. The IVS8-nT polymorphism was analyzed by PCR followed by «A.L.F.-express» fragment analysis in the infertile men group, consisting of 113 azoospermic and 217 oligozoospermic patients, and the control group of 150 fertile men with proven paternity. Results. The frequency of the IVS8-5T allele among infertile males was higher than in controls. A statistically significant difference (P < 0.05) was observed in the frequencies of the IVS8-5T allele in azoospermia patients (5.3 %) when compared with the control group (2.0 %). Conclusions. The IVS8-5T allele of the CFTR gene contributes to spermatogenesis failure and/or sperm maturation

The summarized results of 25-year studies of department of human genomics of IMBG NASU are presented. The investigations were focused on identification of molecular genetic nature of human genome coding and non-coding region mutations (genetic polymorphisms) and rearrangements, their spectrum, and origin in Ukrainian population. The role of genome heterogeneity in some severe monogenic and complex disorder pathogenesis has been shown. The data concerning correlation between certain determinator gene mutations and phenotypical manifestation of most common in Ukraine monogenic diseases have been demonstrated. Moreover, the role of modifying genes in specific clinical phenotype variations has been shown. Origin of particular mutant alleles and main mechanisms of their frequency maintenance in Ukrainian population have been investigated. The data about association of some polymorphic variants with infertility, cardiovascular diseases (ischemic stroke) as well as mass infectious diseases (hepatitis C, AIDS) outcome and standard therapy efficiency have been presented. The first results and prospects for candidate genes of neurodegenerative disorders and intellectual disability search using whole genome CNVs screening are shown.

Г.В. СТРЕЛКО к. мед. н., лікар акушер-гінеколог вищої категорії, репродуктолог, головний лікар МЦ ТОВ «Родинне джерело», м. Київ Г.В. ЗАЙЧЕНКО д. мед. н., професор, завідувачка кафедрою фармакології Національного медичного університету ім. О.О. Богомольця В.В. УЛАНОВА лікар акушер-гінеколог вищої категорії, репродуктолог МЦ ТОВ «Родинне джерело», м. Київ Контакти: Фесай Ольга Анатоліївна Медичний центр ТОВ «Родинне джерело» 03186, Київ, авіаконструктора Антонова 2-Б Тел.: