Karyotyping of 366 couples (732 individuals) with early recurrent pregnancy losses in anamnesis revealed chromosomal anomalies in 4.09% (30 cases)-within them 2.05% carry reciprocal translocations, in 0.82%-Robertsonian translocations, 0.55% carry numerical and structural gonosomal anomalies and in 0.27%-marker chromosome of unknown origin. The risk of early reproductive losses in women after exclud ing the cytogenetic component increases three fold if SNPs 1082GG, 592CC, 819CC of IL 10 gene and IFN γ + 874AT or 874AA genotypes are present. ELISA-mediated detection of serum IL 10 and IFN γ showed a possibly significant increase of IFN γ in women with the history of early reproductive losses when compared to reproductively healthy women. We are proposing a complex cyto-and immunogenetic investi gation in cases of early reproductive losses in women. One of the important issues of reproduction are the immunological mechanisms of pregnancy maintenance, where the disbalance in the genetically determined Th1-and Th2-cytokine levels may be one of the causes of early fetus elimination.
Aim. The determination of chromosomal abnormalities in samples from early pregnancy losses and allelic polymorphism of HLA-DRB1 and DQA1 genes in couples with recurrent miscarriage. Methods. Banding cytogenetic and interphase mFISH analysis, DNA extraction by salting method, PCR, agarose gel electrophoresis. Results. Cytogenetic and molecular-cytogenetic investigations of SA material identifi ed karyotype anomalies in 32.4 % of cases with prevalence of autosomal trisomy -42.65 %, triploidy -30.38 % and monosomy X -19.11 %. Complex analysis of frequency and distribution of allelic variants of genes HLA-DRB1 and HLA-DQA1 allowed establishing the alleles DRB1*0301, DRB1*1101-1104 and DQA1*0501 to be aggressor alleles in women with recurrent pregnancy loss (RPL). The cumulative homology of allelic polymorphism of more than 50 % of HLA-DRB1 and HLA-DQA1 loci between partners increases the risk of RPL by almost four times. Conclusion. The detected chromosome aneuploidies in the samples from products of conception and the changes in the major histocompatibility complex genes can cause the failure of a couples reproductive function and can lead to an early fetal loss.
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Aim. Analyze the distribution of allelic polymorphism of HLA-DRB1, DQA1, DQB1 genes and HLA-G 14-bp insertion/deletion polymorphism in women with RPL. Methods. DNA extraction, PCR, agarose gel electrophoresis. Results. A comprehensive analysis of the distribution and frequency of allelic variants of genes HLA-DRB1, HLA- DQA1, HLA-DQB1 and HLA-G 14 bp insertion/deletion polymorphism among women with RPL. Conclusions. Сhanges in the major hystocompatibility complex genes can cause the failure of a woman’s reproductive function and lead to an early fetal loss
Aim. Human reproduction characterized by a high incidence of aneuploidies. Approximately 99 % of conceptions with anomalies of karyotype terminate of pregnancy loss, mainly during the first 14 weeks of intrauterine development. The frequency and spectrum of karyotype anomalies in the chorionic villus of early reproductive losses were studied depending of maternal age. Methods. Banding cytogenetic and interphase mFISH with the centromeric probe panel for chromosomes 13, 14, 15, 16, 17, 18, 21, 22, X and Y were used. Results. The contribution of different karyotype abnormalities in the genesis of the early reproductive losses depends on the age of the woman, namely, with age significantly increases the proportion of aneuploidy due to autosomal trisomies and reduced contribution of polyploidy and gonosomal monosomy. The main autosomal trisomy in the material of lost pregnancies from women under the age of 35 is 16, 21 and 15, 22, 13 and 18 in order of decreasing frequency, and from older women 16, 15, 22, 21, 13 and 14. Conclusions. The structure and rate of karyotype anomalies in the material of lost pregnancies varies with maternal age.
Keywords: early reproductive loss, maternal age, karyotype abnormalities.
Aim. Celiac disease (CD) is a multifactorial pathology with high genetic predisposition, and is associated with reproductive health disorders in women. The purpose of the study was to investigate the presence of HLA-DQ2.5 (HLA-DQA1 * 05:01 HLA-DQB1 * 02) and HLA-DQ8 (HLA-DQB1 *03:02) genotypes of predisposition to CD in women with recurrent pregnancy loss. Methods. PCR-SSP (polymerase chain reaction with sequence-specific primers). Results. The increased risk of recurrent pregnancy loss in women is associated with DQ2.5 - the pre-disposition genotype for CD (c2=4.35, P<0,05). Calculation of odds ratio (OR) showed more than 4-fold increase in recurrent pregnancy loss risk in women with HLA-DQ2.5 genotype. Conclusions. The study of HLA markers of celiac disease in women with reproductive loss is important for the purpose of preconceptional prevention of recurrent pregnancy loss.
Keywords: celiac disease, recurrent pregnancy loss, HLA markers.
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