Currently, diagnostic procedures that do not require invasive intervention, are very popular. As a part of modern prenatal diagnosis these methods allow to eliminate the risk for the mother’s and fetus health. The current molecular genetic methods in the field of non-invasive prenatal diagnosis are discussed in the review. Special attention is paid to the possibility of using the developed methods in clinical practice now and in the near future.

The attitude of PKU patient’s parents to prenatal diagnosis (PD) and fetus abortion with PKU was studied. The survey involved 187 PKU patient’s mothers living in Moscow, the Moscow Region, Krasnodar Region, St. Petersburg and Rostov region. It was shown, that the birth of the PKU child has affected reproductive plans in 39.6% of respondents, they did not wish have any more children after the birth PKU child. The intention to use the PD PKU were expressed by 81 of respondents (43.3%), and the willingness to terminate a PKU fetus pregnancy were suggested by 53 (65.4%) of them. The choice in favor of abortion a PKU fetus was correlated with the degree of burden of management of PKU child. Despite the fact that less than a half of the respondents were willing to use the PD for the next pregnancy, 76% of respondents considered it useful, and only 10% thought that it should not be used because of the successful treatment of PKU.

We studied the mitochondrial genome polymorphism in the group of patients with myocardial infarction, taking into account cooccurrence of the diabetes mellitus. Associations were investigated for the mtDNA polymorphism and body mass index, serum lipids, glucose levels and blood pressure. Association of haplogroup H with body mass index in the sample with infarction (p = 0,017) and with glucose levels in diabetic patients at admission (p = 0,03) has been found.

Up to 1% of all colorectal cancers appear as a result of familial adenomatous polyposis. This hereditary syndrome in most cases is driven by APC gene germline mutations. Around 85% of mutations are small deletions/insertions and nonsence mutations, while other 15% are large deletions, missence and splice site mutations. Meanwhile, functional significance of some of missence mutations and intronic variants of APC gene is not described. We determined pathogenic significance of a previously not described c.423-6A>G variant of APC gene in a patient with familial adenomatous polyposis. We analyzed mutation changes on mRNA level revealing changes of transcript as a result of disturbed splicing process. Data strongly suggests that c.423-6A>G variant of APC gene is a pathogenic mutation.

Endothelin-1 system plays an important role in regulation of vascular tone and vascular remodeling. The aim of the current study was to perform an analysis of association between essential hypertension and polymorphic variants in genes, encoding endothelin-1, endothelin-converting enzyme, endothelin receptors A and B, in the ethnic group of Tatars residing in the Republic of Bashkortostan. We found an association of EDNRA rs6842241 and EDNRB rs5351 polymorphic variants with essential hypertension in men. Furthermore, an increased risk of essential hypertension was detected for the carriers of EDNRA *G/G genotype and EDNRB *C allele combination, while EDNRA *C and EDNRB *A alleles combination had protective effect against the development of the disease.

This research objective was to explore the frequencies of polymorphic allelic variants of CYP2C9 gene, which encodes 2C9 isoenzyme of P450 liver cytochrome, in women of childbearing age, and the association of carriage of CYP2C9*2 and CYP2C9*3 polymorphic variants with valproic acid (VA) level and valproate-induced side effects. Methods: we examined DNA of 148/199 (74.4%) female patients taking valproate. Results: heterozygous carriage of CYP2C9*2 allele was found in 12.2% cases, heterozygous carriage of CYP2C9*3 found in 18.9%, and the compound heterozygote (genotype CYP2C9*2/*3) was diagnosed in 1.4% cases. Incidence of valproic acid cumulation in the compound heterozygote CYP2C9*2/*3 female carriers was 8 times higher than that in homozygous female carriers of CYP2C9*1 ‘wild’ allele; and this incidence in heterozygous female carriers of CYP2C9*2 and CYP2C9*3 was, respectively, 2.6 times and 3 times higher than that in the homozygous carriers of CYP2C9*1.

The possibility of detection of rare hereditary diseases by improving the genetic health care for patients with congenital malformations is discussed. An algorithm of the follow-up of patients with congenital malformations is presented. The algorithm is a pattern of interaction of various health care specialists with the medical genetic service. Issues of the timeliness of medical genetic counseling, as well as interdisciplinary interaction of the health care specialists are raised.

The clinical features of the disease in patients from a Russian family with the dominant hereditary motor and sensory neuropathy (HMSN) due to the new mutation in the GDAP1 gene: s.934G> A (p.Ala312Thr) are described in this article. The main characteristics of the disease: age of onset (2 decade of life), slow progression, mild clinical symptoms (compared to frequent recessive form HMSN4A) and predominantly axonal lesion of the nerve fibers correspond to known form - HMSN2K.