Коллагеновые волокна играют существенную роль в формировании связочного аппарата тазового дна. Однако, проведенные ранее исследования не дают точного ответа о роли полиморфных вариантов генов коллагена в дисфункции тазового дна. Целью настоящего исследования было определить ассоциацию однонуклеотидных полиморфизмов rs1800012 гена COL1A1, rs1800255 и rs1801184 гена COL3A1, rs2236479 гена COL18A1 и их сочетаний c пролапсом тазовых органов (ПТО) и стрессовым недержанием мочи (НМ). Группу исследования составили 150 пациенток с ПТО и/или НМ. В группу контроля вошли 100 пациенток без тазовой дисфункции. Пациентки были сопоставимы по возрасту и внешним факторам риска. Ассоциаций между полиморфизмами rs1800012 гена COL1A1, rs1800255 и rs1801184 гена COL3A1, rs2236479 гена COL18A1 и тазовой дисфункцией выявлено не было. Collagen fibers play a significant role in the formation of the ligamentous apparatus of the pelvic floor. However, previous studies do not give an exact answer about the role of polymorphic variants of collagen genes on pelvic floor dysfunction. The aim of this study was to determine the association of single nucleotide polymorphisms rs1800012 of the COL1A1 gene, rs1800255 and rs1801184 of the COL3A1 gene, rs2236479 of the COL18A1 gene and their combinations with pelvic organ prolapse (POP) and stress urinary incontinence (SUI). The study group consisted of 150 patients with POP and/or SUI. The control group included 100 patients without pelvic dysfunction. Patients were comparable in age and external risk factors.All patients received a buccal epithelium for analysis. Sequencing was carried out by the Sanger method. Association between the rs1800012 polymorphisms of the COL1A1 gene, rs1800255 and rs1801184 of the COL3A1 gene, rs2236479 of the COL18A1 gene and pelvic dysfunction were not detected.

Преэклампсия (ПЭ) на сегодняшний день является наиболее значимым медико-социальным заболеванием у женщин во время беременности. В мире частота ПЭ варьирует в широких пределах-от 3 до 14-21% [1]. К сожалению, за последние годы не отмечено тенденций к снижению развития ПЭ во время беременности у женщин во всем мире. В России ПЭ встречается в 11-16% случаев и занимает третье место среди причин материнской смертности [2, 3]. Этиология и патогенез ПЭ до конца не изучены. Сегодня существует достаточное количество гипотез возникновения данного осложнения. Наиболее актуальной является теория, определяющая ПЭ как мультифакторное заболевание, в основе которого лежат генетические и средовые факторы [4-6]. Благодаря открытию F. Crick и J. Watson в 1953 г. двойной спирали ДНК, активному развитию генетики, молекулярной биологии, нанотехнологий появилась возможность идентифицировать гены и изучать геном человека и его вариабельность, а также молекулярные механизмы наследственных заболеваний, патологических состояний.

Objective-to develop the method of personal prediction of preeclampsisa progression on the basis of multivariant analysis of clinical, anamnestic and genotypic data. Material and methods. The results of screening of 49 patients with preeclampsisa and 48 patients with physiological pregnancy were presented. The outcome analysis was performed by methods of binary and multiple mathematical statistics. Results. Comparative analysis revealed a high frequency of cardiovascular pathology, metabolic disorders, premature birth, family history in patients of the main group compared with the control. Genetic analysis of blood samples showed a higher frequency of C4599A polymorphism of AGTR2 in patients with preeclampsia compared with healthy pregnant women (p=0.009). Conclusion. On the basis of clinical, anamnestic and genotypic data analysis a prognostic test was developed.

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The study objective is to evaluate the significance of the Y chromosome microdeletions for prediction of spermatozoa retrieval during testicle biopsy in men with severe azoospermia and oligozoospermia.Materials and methods. In total, 109 men aged 21 to 56 years (mean age 32.7 ± 0.2 years) with infertility in marriage were examined. Cytogenetic, special andrological, spermiological, and molecular genetic examinations were performed to evaluate non-genetic and genetic causes of infertility.Results. Normal karyotype and absence of AZF deletions were found in 75 men, presence of deletions – in 34. The frequencies of pathozoospermia forms were comparable in these groups. Spermatozoa were retrieved during biopsy in 47 (62.7 %) patients without Y chromosome microdeletions and only in 7 (20.6 %) patients with Y chromosome microdeletions. The men with AZF deletions were divided into 2 subgroups: men with complete AZF region deletions (n = 25) and men with partial AZF deletions (n = 9). Among men with complete deletions, azoospermia was diagnosed in 25 (100 %), spermatozoa were retrieved during biopsy in 2 (8 %); among men with partial deletions, azoospermia was diagnosed in 7 (77.8 %), severe oligozoospermia in 2 (22.2 %), spermatozoa were retrieved during biopsy in 5 (56 %). Then the patients were divided according to another criterion: 54 patients from whom spermatozoa were retrieved during biopsy and 55 men with negative results. Among patients with successful result of biopsy, Y chromosome microdeletions were identified in 7 (13 %); among patient with negative biopsy result – in 27 (49 %) (р < 0.01).Conclusion. Success rate of spermatozoa retrieval during testicle biopsy is significantly higher in men without AZF deletions (р < 0.01) than in men with deletions. Molecular genetic examination of Y chromosome microdeletions is recommended for men with azoospermia and severe oligozoospermia because it allows diagnosing of cause male infertility and predicting.