Cystic Fibrosis – rare CFTR mutations

Cystic fibrosis (CF), also known as mucoviscidosis is an inherited disease (OMIM: 219700) associated with ion transport disorder in the epithelium and caused by mutations in the CFTR gene (Cystic fibrosis transmembrane conductance regulator).

Depending on the degree of the protein damage, CFTR gene mutations are divided into classes (see Table 30). The most damaged proteins are referred to the class I–III mutations. They lead to synthesis of the truncated protein, its defective maturation (folding) or defective chloride channel response to cAMP stimulation. The degree of protein damage determines the severity of phenotypic manifestations of the disease. Class I–III mutations are phenotypically severe mutations.

Genetic diagnosis is important for cystic fibrosis diagnosis in newborns, including when it is not possible to undergo sweat test (small amount of sweat, low weight of the child). Identification of CFTR gene mutations makes it possible to make a diagnosis and initiate treatment at the pre-clinical stage.

It should be noted that non-detection of mutations does not exclude CF diagnosis, since a patient can have extremely rare mutations that cannot be identified by use of a panel. For improvement in the economic efficiency of diagnostics, a two-step diagnostic algorithm is recommended:

• Level 1: Analysis for the presence of frequent mutations, which can achieve over 70 % detection;

• Level 2: Study of rarer mutations, which can achieve 85 % detection

Cystic Fibrosis – rare CFTR mutations REAL-TIME PCR Genotyping Kit is intended for detection of the 16 relatively rare genetic polymorphisms associated with inherited risk of cystic fibrosis.

Sample: peripheral blood

DNA extraction: PREP-GS-GENETICS and PREP-RAPID-GENETICS kits

Certification: RUO