Telomere lengths in women with early reproductive losses

Aim. Study of the relative telomere lengths in women with a history of early reproductive losses. Methods. Relative Telomere Length (RTL) was studied in the peripheral blood lymphocytes using a real time polymerase chain reaction (RT-PCR). Results. RTL was studied in 281 women, among which 169 - with early reproductive losses (ERL) (surveyed group) and 112 - have healthy children and no reproductive losses in history (control group). For women under the age of 35, the average RTL value is significantly higher than that of older women, P = 0.003597. In women with ERL, RTL is significantly lower than that of women with a preserved reproductive function, P = 0.0000001. The value of RTL is significantly lower in women with ERL under 35 years compared with control, P = 0.0000001, and is similar to value of RTL in women in the control group at the age of 36, P&gt; 0.05. Conclusions. The telomere lengths is significantly lower in both older women and women with ERL. The similarity of RTLvalue in women with ERL up to 35 years of age and in women with a preserved reproductive function at the age of 36 years testifies to the telomeric theory of reproductive aging. Keywords: telomeres, RT-PCR, women, age, early reproductive loss.</jats:p

Комплекс цитогенетических и молекулярно-генетических исследований мужчин с нарушеничми сперматогенеза

The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45 %) patients with aspermia, 19 (24 %) patients with azoospermia and 25 (31 %) patients with severe oligoasthenoteratozoospermia. In total 30 % males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.5 % of infertile men, within 16.2 % numerical and structural gonosomal anomalies and in 1.3 % – Robertsonian translocation were revealed. In 11 % males with spermatogenetic failure, Y-chromosome AZF region microdeletions were detected. The frequency of CFTR major mutation F508del among infertile men was 6.25 %. 5T allele of polymorphic locus IVS8polyT was detected in 7.5 % of examined men. The results obtained indicate the high complexity of cytogenetic and moleculargenetic studies of male infertility.Изучали аномалии хромосом, микроделеции AZF региона Y-хромосомы и мутации гена ТРБМ у 80 мужчин с идиопатическими нарушениями сперматогенеза, а именно: у 36 (45 %) пациентов с аспермией, 19 (24 %) пациентов с азооспермией и 25 (31 %) пациентов с олигоастенотератозооспермией IV степени. В общем у 30 % мужчин с нарушениями сперматогенеза установлены генетические факторы бесплодия. Нарушения кариотипа наблюдали у 17.5 % бесплодных мужчин, среди них у 16.2 % – количественные и структурные аномалии хромосом и у 1.3 % – робертсоновскую транслокацию. У 11 % мужчин с нарушениями сперматогенеза выявили микроделеции AZF региона Y хромосомы. Частота мажорной мутации F508del гена ТРБМ среди бесплодных мужчин составила 6.25 %. 5T аллель полиморфного локуса IVS8polyT выявили у 7.5 % обследованных мужчин. Полученные результаты свидетельствуют о высокой информативности комплексного цитогенетического и молекулярно-генетического исследования при мужском бесплодии.This work was supported of Science and Higher Education of Poland (grant no. N407 034 32/1371 [2007–2009])

Allocation features and frequency of KIR-genes in women with regular early reproductive losses

Aim. KIR (killer cell immunoglobulin-like receptors) are the transmembranous glycoprotein receptors, role of which is to activate or inhibit the functional activity of cells, the surfaces of which they are located on. Genetically determined balance between KIR-activating and KIR-inhibiting receptors can contribute to some diseases predisposition. In this work we have studied the spectrum and frequency of KIR-genes among women with regular early idiopathic reproductive failures. Methods. Gene typing was conducted by PCR-SSP method. Results. Typing of KIR-genes was conducted in 31 DNA samples, extracted from peripheral blood cells from women without reproductive losses and in 38 DNA samples, extracted from peripheral blood cells from women with early reproductive losses of idiopathic nature. We found, that in women with reproductive failures genotypes of KIR-genes were characterized by decreased amount of activating genes. The presence of 2DL3 and 2DL5 genes increases the risk of early reproductive failures in 2 and 3 times, respectively. Conclusions. The shift of repertoire of KIR-genes into the domination of inhibitory genes and the spectrum features of KIR-genes can increase the risk of early reproductive failures.&#x0D; Keywords: KIR-genes, recurrent pregnancy loss, PCR-SSP.</jats:p