Molecular studies of CF in Russia

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Objective. Cystic fibrosis (CF) is one of the most common autosomal recessive disorders affecting about 1 in 2 500 live births in Western and 1 per 6000 live births in Eastern Europe populations.

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Methods. Polymerase chain reaction (PCR) is used for detection pattern of CF mutations in high risk CF families in Russia and in St. Petersburg.

Results. Altogether 1955 CF families were admitted for molecular studies & PD of CF in our Center, 390 of them requested for PD & 97 pregnancies after PD were recommended for termination. DelF508 is encountered in 30-50% of all CF chromosomes in different Slavs; other CFTR mutations of diagnostic value in Russians include W1282X; 2143delT; G542X; N1303K, CFTRdel21kb. Common mutation delF508 was registered in 59% Pl-patients from St. Petersburg. The most important mutations for molecular diagnostic of CF in St. Petersburg are delF508-59%, CFTRdel21kb-3,7%, W1282X-3%. We adopted multiplex reaction for simultaneous testing delF508 2143delT W1282X and CFTRdel21kb. It allows screening of this common mutations in one reaction.

Conclusions. About 65-75% of all Russian CF chromosomes might be identified by mutation analysis so far. The most important mutations for molecular diagnostic of CF in Russia are delF508, CFTRdel21kb, W1282X, 2143delT.