Генетические особенности муковисцидоза у пациентов Чувашской Республики

In article data of genetic inspection at patients with cystic fibrosis (CF) in the Chuvash Republic are analyzed. The characteristic of genotypes of patients is given, the allelic frequency of mutations is presented. Are studied occurrence of CF in the Chuvash Republic according to neonatal screening, the assessment of the genetic status and a number of clinical indicators is carried out, the survival of patients CF in the Chuvash Republic is defined. Feature of a genetic profile of patients CF in this region is rather small quantity of the revealed mutations. Besides, the received results testify to considerable prevalence of a "soft" mutation of E92K in a genetic profile of patients which meets in the surveyed selection almost twice more often than the most widespread in the world and Russia F508del mutation. Existence of a "soft" genotype was reflected considerably by smaller number of complications from digestive organs at patients of the surveyed group that, in turn, affected number of adult patients. Indicators of a neonatal srining on CF in the Chuvash Republic are presented.