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Aim. The aim of our study was to evaluate the relationship between exogamy degree and lactose assimialation among the population of Eastern Ukraine in the Kharkiv region. Methods. The analysis included information on consumption and assimilation of milk and dairy products by 733 people aged from 14 to 79 years were. Statistical analysis included Shapiro-Wilk test, Pearson fitting (χ2) criterion and Spearman’s correlation analysis. Results. The lactose tolerance (LT) phenotype was found in 69.5%, whereas lactose intolerance (LI) – in 8.8% (from 3.5% to 24.1% in different age groups). In the age group 30-39 years: LI frequency was 24.1% being 2.5-6 times higher than in other groups. The exogamy degree of parents (EDP) showed in the group aged from 30 to 39 years the first EDP was 15.4%, being 1.4-2.5 times less (p = 0,05) than in other groups. Among people with bone marrow disorders the proportion of people with the first and second EDP was 60.9%, being 2.1 to 6.0 times higher than in other groups. Reduced EDP or increased inbreeding level causes the similarity of the chromosomes and affects the density of contact points between them during meiosis, level of recombination can be increased and associated with multifactorial traits. Conclusions. The results can be explained by the effect of the inbreeding level reduction in the presence of a high level of exogamy of parents, which causes high genetic diversity. Keywords: lactose intolerance, lactose tolerance, exogamy degree of parents, single nucleotide polymorphisms 13910C-T and 22018G-A, gene МСМ6.

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The correlation between semen DNA fragmentation level and the male age was investigated. The dependence for the blastocyst formation rates on the sperm DNA fragmentation has been examined in patients with low reproductive function. The increase of DNA fragmentation level correlates with the decrease of the blastocyst formation rates (p < 0.05). The significant negative relationship between sperm DNA fragmentation and the male age is proved (p < 0.05). The age of 35 years old could be discussed as clinically critical male age for the process of chromatin compaction during the process of spermatogenesis.

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Prior studies suggested sperm with damaged DNA permits fertilization but may lead to failure of embryo implantation following blastocyst formation. Quantitative correlations between DNA damage and risk of implantation failure have, however, so far not been performed. The aim of this study was to investigate two FSHR gene polymorphisms G919A (Ala307Thr) and A2039G (Asn680Ser) in Eastern Ukrainian Caucasian men with abnormally low fertility. The molecular genetic analysis was performed by real-time PCR, with the level of DNA fragmentation measured by the sperm chromatin dispersion (SCD) method. The relationship between DNA fragmentation in sperm and these genetic polymorphisms was estimated. Compared to homozygotes, the risk of high-level DNA fragmentation (>20%) increased in men up to age 35 years 16-fold for heterozygotes GA of polymorphic variant G919A, 28-fold for homozygotes AA of polymorphic variant G919A; and 16-fold for heterozygotes GG of polymorphic variant A2039G. A statistically significant positive correlation between number of alternative alleles of the FSHR gene in genotype and degree of DNA fragmentation is proved (rs = 0.70, P < 0.01).

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