The origin and basic steps of predictive medicine, crisis in predictive genetic testing provoked by «missing heretibility», its gradual transformation into predictive, preventive, personalised and participatory medicine and its basic peculiarities at the era of new generation sequencing, systemic genetics and bioinformatics are briefly reviewed.

Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder caused by mutations within the SMN1 gene. SMA is a highly polymorphic disease: patients with different forms (SMA types I-IV) are characterized by variability of severity and duration of survival. Such discrepancy can be caused by genetic factors influencing disease manifestation. SMN2 gene copy number is the most prominent SMA modifier. Still the number of copies of this gene does not always correlate with SMA severity, indicating the existence of other factors modifying clinical manifestation of the disease. Different proteins influencing SMN2 gene expression and SMN protein level as well as factors determining motor neuron survival might be among them. The study of such factors is necessary for better understanding the mechanisms of SMA development and might have substantial clinical relevance.

In this review, we present recent data on the epigenetic reprogramming in human gametogenesis and preimplantation embryogenesis. We summarize current knowledge on the dynamic changes of DNA methylation - the key mechanism of genome epigenetic regulation - in gametes and preimplantation embryos. We also discuss the differences in dynamics and mechanisms of imprinted and non-imprinted regions reprogramming in male and female germ cells.

Here we have reviewed the molecular basics and capabilities of the high-resolution DNA melting curve analysis for mutation identification. The potential of this technique has been significantly improved by recent developments. The sensitivity and specificity of the high-resolution analysis of DNA melting curves significantly increased because of the emergence of «saturating» DNA dyes and due to the development of instruments for precise measuring the melting changes. HRM analysis (High Resolution Melting) does not require fluorescent probes, does not damage the sample and has high resolving power. Because of its simplicity, specificity, and high sensitivity this method is prevalent in laboratories for DNA scanning and genotyping for the purpose of diagnostics of hereditary diseases.

Testing for inherited predisposition to miscarriage is an important task of genetic counseling in reproduction. One of the factors of miscarriage is deficiency of folic acid and b vitamins together with the gene polymorphism of the folate cycle. The purpose of the study was to analyze the frequency of polymorphic alleles and genotypes of genes of folate cycle in women of the Ural region and miscarriage the first trimester of pregnancy. Materials and methods. The main group consisted of 53 women with recurrent miscarriage first trimester, the comparison group of 117 women who had no cases of miscarriage in anamnesis, having one or more healthy children. All women were analyzed the following polymorphisms: MTHFR 677 C>T, MTHFR 1298 A>C, MTRR 66 A>G, MTR 2756 A> G. Results. In the group of women with recurrent pregnancy losses significantly more common genotype MTRR 66АА that defines the synthesis of the active form of the enzyme MTRR (OR = 2,44, CL95% from 1.06-5,64, p = 0.035) compared to reproductive to women in the comparison group. Frequency of polymorphic alleles and genotypes of polymorphisms MTR 2756 A>G, MTHFR 677С>T and 1298 A>C in women of the Ural region are within the boundaries of the global data and close to the estimates shown for Caucasians, and far removed from the Mongoloid population.

The strength of association between polymorphisms of hemostasis system and endothelium dysfunction genes and development of gestational complications was assessed. The research included two groups of women: experimental (n = 257) and control (n = 190). The first group consisted of women with pregnancy pathology (preeclampsia, placental abruption, strong placental failure, syndrome of a fetus loss). The control group comprised women without pregnancy pathology who gave birth to a healthy child. Allele A of prothrombin G20210A, allele C of locus G634C (gene VEGF ), allele 4G of the polymorphic locus 5G/4G of gene PAI-1 were associated with risk of development of obstetric pathology (p<0.05). Polymorphisms of MTHFR , еNOS , FV genes don’t lead to development of gestational complications.

We report on a rare case of genetic imbalance - 8p and 18p terminal deletions combined with microduplications in karyotype 45,ХХ,der(8)t(8;18)(p23;p11.3),-18dn of a 28-year old female patient with no pronounced physical and mental abnormalities.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive congenital disorder. CYP21A2 gene mutations cause 95% of CAH cases. CYP21A2 gene is located on the short arm of chromosome 6 (6p21.3). Here, we present results of prenatal genetic analysis in a family X. with a child suffering by salt-wasting CAH form. CYP21A2 mutations and MICA polymorphisms were identified by PCR-RFLP. Gene copy number was determined by real-time PCR. Two different CYP21A2 mutations in trans-configuration along with a «healthy» gene copy, which was inherited from the father, were identified in the DNA samples from chorionic villi. We have concluded that the fetus has no CAH. The absence of CAH was confirmed after birth.