[Comparative results of preimplantation genetic screening by array comparative genomic hybridization and new-generation sequencing].

Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method. NGS data were collected for 38 biopsied embryos and compared with the data from array comparative genomic hybridization (array-CGH). The concordance between the NGS and array-CGH data was 94.8%. Two samples showed the karyotype 47,XXY by array-CGH and a normal karyotype by NGS. The discrepancies may be explained by loss of efficiency of array-CGH amplicon labeling.

Comparison of the results of preimplantation genetic screening obtained by a-CGH and NGS methods from the same embryos.

Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos. This article presents our study of evaluation of two techniques used for PGS: previously developed and used in our laboratory a-CGH assay based on Agilent technology and newly tested semi-conductive NGS technique (Torrent technology).

PGD for dystrophin gene deletions using fluorescence in situ hybridization.

Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene (Xp21). In two-thirds of DMD/BMD cases, the mutation is a large deletion of one or several exons. We have established PGD for DMD/BMD using interphase fluorescence in situ hybridization (FISH) analysis on single nuclei from blastomeres for the detection of deletions of specific exons in the dystrophin gene. We performed PGD for two carrier females; one had a deletion of exons 45-50 (DMD), and the other had a deletion of exons 45-48 (BMD). An exon 45-specific probe was used in combination with probes for the X and Y centromeres. Using this straightforward approach, we can distinguish affected and unaffected male embryos as well as carrier female and normal female embryos. Three cycles were performed for each patient, which resulted in a pregnancy and the birth of a healthy girl. To the best of our knowledge, this approach for PGD has not been previously reported. The use of interphase FISH is an attractive alternative to sexing or PCR-based mutation detection for PGD patients with known deletions of the dystrophin gene.

[Reciprocal effect of Klebsiella pneumoniae and Lactobacillus on their cytadhesion]. / Vzaimovliianie Klebsiella pneumoniae i laktobatsill na ikh tsiadgeziiu.

Reciprocal effect of 4 strains of Klebsiella pneumoniae and 6 Lactobacillus strains on their cytadhesion in mixed populations was studied on a model of formalinized human erythrocytes. The Lactobacillus strains included 2 strains of Lactobacillus casei subsp. casei, 2 strains of L. plantarum and 2 strains of L. fermentum. It was shown that adhesion of both the Klebsiella and the Lactobacillus strains changed under their reciprocal effect. The changes were characterized by the strain differences and depended on the quantitative ratio of the microorganisms.

[Effect of antibiotics on the adhesive properties of microorganisms and an available model for its study]. / Nekotorye aspekty vliianiia antibiotikov na adgezivnye svoistva mikroorganizmov i dostupnaia model' ego izucheniia.

The effect of benzylpenicillin, ampicillin, bicillin-3, carbenicillin, levomycetin, erythromycin, streptomycin and kanamycin on the adhesive properties of 9 test microbes including 5 strains of Lactobacillus from human microflora, 3 uropathornic strains of E. coli and 1 strain of S. aureus was studied with the method developed by the authors. The method is based on the use of formalinized human erythrocytes as macroorganism cells. It was shown that the antibiotic inhibitory effect on adhesion depended on mechanism of action of the antibiotics and their concentration, was associated with the level of the microbial adhesion and did not depend on the microbial sensitivity to the drugs.