REVIEW
Examines the development, structure and function of the vestibular apparatus and its genetic control. The vestibular apparatus develops from a general with a hearing aid otic anlage. Their separation is controlled genetically. Common to both systems is the sensory hair cells. Five specific areas of hair cells vestibular system are the site of perception of linear acceleration and angular acceleration, gravity and space perception and vibratory oscillations. Distinctive features of the vestibular system are the conservation of kinocilia on hair cells, and formation otoconia.
In last 5 years next generation sequencing technologies made a huge impact on research of genetic aspects of pathogenesis and initiated the evolvement of the science of med ical genomics. At the moment we can observe multiple attempts of implementation of high-throughput sequencing in clinical diagnostics. Nevertheless those attempts might be meaningless without deep knowledge of such techniques, especially of its development, specificity and possible pitfalls. In this review we take a detailed overlook of existing and developing technologies and discuss most spectacular examples of its applications in medical genomics and its potential for implementation in routine diagnostic laboratory practice.
15—20% of recognized pregnancies are lost as spontaneous abortions during first trimester, and about half of them are caused by fetal chromosome abnormalities. Identification of these abnormalities helps to estimate recurrence risks in future pregnancies. However, due to cell culture failures, maternal cell contamination and submicroscopic rearrangements often no fetal karyotype can be obtained. Array-based comparative genomic hybridization (aCGH) can overcome some of these limitations and ascertain fetal karyotype with high resolution. In addition, this approach permits to investigate copy number variations (CNV) with purpose to search for variants associated with reproductive wastage. This approach permits also ascertainment of genes crucial for embryonic development.
ORIGINAL RESEARCH
Economic acceptability is a prerequisite for the introduction of new medical technologies into clinical practice, which also applies to pharmacogenetic test i ng (PGT). pGt is very promi s i ng tool for personali zed med i cine. We made an economic analysis of clin i cal application of FGT to personalize dosing of indirect anticoagulant warfarin in clinical practice. In the group of PGT included 77 patients, in the control group — 82 patients. The cost of medical care were significantly less in patients PGT vs control group: 263.05 vs 506.66 rubles. 1 person-month, p=0.001.
Polymorphism of the gene MTHFR, MTRR, MTR, ITGB3, ITGA2, FGB, SERPINE1 were stud i ed in women with miscarriage in the first trimester. There was no association of MTHFR and MTRR gene polymorphism with increased risk of miscarriage. The frequency of allele 2756G MTR gene in women with recurrent miscarriages was higher than for the control group (%2=5,3; p=0.02). The frequencies of polymorphisms of integrins, fibrinogen and plasminogen activator inhibitor genes were simi i ar in both groups. The increased risk of developi ng complications duri ng pregnancy was estabi ished for women with polymorphic variants of genes MTRR, MTR and SERPINE1 (OR=2,3; p=0,013). The presence of polymorphisms of three genes simultaneously (MTRR, MTR and ITGB3)was signifi -cantly higher among women were miscarriage (Or=5,9; p=0.003).
BRIEF REPORT
On the basis of 1692 demographic quest ionnaires received duri ng poll of Tatars of post-reproductive age in 8 regions of Tatarstan, the gamet's index for «mother—child» steam is counted. In country people the gamet's index vari ed from 0,82 to 0,92, in the popu i ation of districts — from 0,10 to 0,57. Changes in time of a gamet's index in the country Tatar people it isn't revealed.