National Consensus Project «Cystic fibrosis: definition, diagnostic criteria, treatment» Section «Genetics of Cystic Fibrosis. Molecular genetic diagnosis of cystic fibrosis»

The results of researches made by the group of the leading geneticists from Federal State Budgetary Institution «Research Centre for Medical Genetics» and the experts of national consensus «Cystic Fibrosis: definition, diagnostic criteria, treatment» are presented. The decision about starting of the project was made on 6^th February 2013 at a meeting of the Scientific Council of the National social organization «All-Russian Association for patients with Cystic Fibrosis». Three consensus sections has been published already, this section (4) is one of the determinants in the diagnosis of cystic fibrosis and is the pharmacogenetic basis for targeted therapy for the disease. Consensus represents the generalized Russian and international experience in genetic diagnostics of cystic fibrosis, conditions associated with the CFTR . Modern classification of CFTR mutations and their clinical significance and approaches to the analysis of pathogenicity are described. Analysis of the diversity of the CFTR mutations in the Russian Federation based on the data from the National CF Patients Register for 2014 and the features of the frequencies of CFTR mutations in representatives of different nationalities is done. The Russian and foreign panels of the most common mutations and recommendations about the algorithm of DNA diagnostics are described. For the first time the information about prenatal and preimplantation diagnostics of the disease is presented. The unified requirements for the form of the genetic conclusion are described.

муковисцидоз, ген CFTR, мутации, ДНК-диагностика, cystic fibrosis, CFTR, mutations, DNA-diagnostics

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