Familial Mediterranean fever (FMF ) is the hereditary autoinflammatory disease with autosom-recessve way of inheritance. The gene MEFV is responsible for the development of the disease, which is located on the short arm of 16^th chromosome. The clinical picture of FMF is characterized by periodically repeated episodes of fever, poliserositis of different localizations, and rarely by erysipelas-like skin rash. The most severe complication of FMF is renal amyloidosis. The diagnosis of FMF is made based on the typicl clinical criteria and genetic testing of MEFV gene mutations. Colchicine is the main medication which significantly decreases the number of FMF attacks and the possibility of renal amyloidosis development. However other medications blocking the interleukins are effective in cases of adverse effects or resistency to colchicines, since the hyperactivation of innate immune system and hypersecretion of interleukins are underlied of FMF pathogenesis. In this review the issues conserning the modern view of etiology of FMF associated with MEFV gene mutations, the new approaches of molecular-genetic diagnosis, and further prognosis are discussed.

Chemokines not only induce chemotaxis and inflammatory and immune responses, but also contribute to the progression of the tumor, so chemokines secreted by solid tumors or metastatic lesions may behave like growth factors and increase the spread of metastasis and angiogenesis. The association study was conducted for rs333 CCR5, rs1801157 CXCL12, rs1024611 CCL2 polymorphisms with bladder cancer development risk. It was shown protective role of the rs1024611 CCL2 in bladder cancer development.

Hereditary neuropathy with liability to pressure palsies (HNPP) belongs to hereditary polyneuropathies disease group which caused by mutations in the PMP22 gene. The gene deletion is the most frequent cause of this disease and it amounts no less than 70 % of all HNPP. Quantification of the copy number of all PMP22 encoding exons is the novel medical technology based on MLPA with the subsequent amplification which has been designed and implemented in practical activities in Federal State Budgetary Institution «Research Centre for Medical Genetics» (FSBI «RCMG»). The efficacy of using this technology has been determined for detection of deletions and duplications. The quantitative analyze of the PMP22 exons copy number was applied to 110 unrelated individuals with the HNPP diagnosis who were directed to the DNA-laboratory in FSBI «RCMG» since 1997 till 2016 years.

Hemophilia A (HA) is a frequent X-linked recessive bleeding disorder resulted from deficiency or dysfunction of coagulation factor VIII (FVIII). It affects 1 of 5000 males. HA is caused by mutations in F8 gene located on chromosome Xq28 and consisted of 26 exons. More than 3000 mutations were described in the gene. The most common mutation is the intron 22 inversion (Inv22). It was found in 30-50% patients with severe HA. In this study we searched Inv22 in unrelated probands with diagnosis «Hemophilia» (40 patients) and relatives of probands whose material was not available (33 persons) from 73 Russian families using inverse shifting-PCR method. Inv22 was found in 33% cases. Mothers of probands with detected Inv22 were carriers of this mutation. Among the four probands with clinical diagnosis «hemophilia B» from the studied group Inv22 was found in one case.

Congenital Muscular Dystrophies (CMD) is the group of the neuromuscular diseases which are characterized by heavy hypotonia, muscular weakness and contractures. Incidence of CMD is estimated as 0,8 on 100 000, and the contribution of congenital muscular dystrophy, merozin-negative (CMD1A) makes in 30-40% of cases of CMD in the European countries. However, the exact frequency of CMD1A and frequency of a carriage of this disease are at the moment not determined. Frequent mutations of LAMA2 gene are revealed that has allowed to create effective system of molecular and genetic diagnostics CMD1A in the burdened families. The medical technology «Detectionsystem in one test tube for frequent mutations at congenital muscular dystrophies» is introduced in practice. The assessment of population frequency of six mutations in LAMA2 gene among residents of the Russian Federation and settlement frequency of CMD1A disease which has made 1 on 83 000 newborns is for the first time carried out.

Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth or CMT disease) is a clinically and genetically heterogeneous group of hereditary diseases affecting the peripheral nervous system. More than 50 CMT-genes are known. All types of inheritance have been described for this disease: autosomal dominant, autosomal recessive, X-linked dominant and recessive. Protein products of CMT-genes expressed in peripheral nerves and result in is the similar phenotype polyneuropathy. Clinical manifestations similar mutations of different genes, as well as various types of inheritance makes it impossible to determine the patient’s risk of giving birth in the family without verification of the diagnosis by molecular genetic methods. At least 5% of all cases of CMT are autosomal recessive inheritance - CMT4. The paper presents the results of a study in Russian CMT patients using new medical technology «One tube detection system for most common recessive CMT-mutation».

On the basis 30 177 marriage records for 1990-2000 calculated and analyzed values of the endogamy index for urban and rural population of the Karachay-Cherkessia as around the list, and separately in mono-ethnic marriages Karachays, Abazins, Circassians, Nogais, Russians. It is shown that for the indigenous population the population of the Republic is the highest hierarchical level, and elementary population corresponds to the territory occupied by a separate ethnic group.