The clinic peculiarities of the mucoviscidosis depending on the genotype

Abstract

The families of patients with mucoviscidosis have been examined. The work is aimed at studying the clinic peculiarities of the mucoviscidosis depending on the type of mutations in gene CFTR. The presentations about the relationship of patients with the different mutations in gene CFTR of patients of the scientific-clinic department of the RAMS MGSC MV have been obtained. The most frequent was DELTA F508 - 58%; it has been shown that it is the most spreaded among the slavonic chromosomes (60%). It has been established, that the homozygotes have the most infavourable prognosis on mutations DELTA F508 as compared with the compound-heterozygotes on this mutation. The obtained data about the frequency of spreading mutations DELTA F508 and other mutations in gene CFTR give the possibility to solve the important questions approving the diagnosis on the molecular level, as well as the prenatal diagnostics in the families suffered from the mucoviscidosis. The detail study of the mucoviscidosis peculiarities depending on the genotype will allow to precisely differentiate the mutations in gene CFTR for the "hard" and "light" onesAvailable from VNTIC / VNTIC - Scientific & Technical Information Centre of RussiaSIGLERURussian Federatio