Ten years of molecular genetic diagnosis of cystic fibrosis in Russian patients
Abstract
Since 1990 466 OF patients and more than 1000 members of their families which were clinically diagnosed in the Department of OF of the Research Centre for Medical Genetics have been examined for 20 mutations in the CFTR gene. More than 80% of the patients were originated from the European part of Russia. The relative frequencies of 13 screened OF mutations were as follows: AF508 — 53%, CFTkdele2.3(21kb) – 6.4%, N1303K – 2.6%, G542X – 2.0%, W1282X – 1.9%, – 3849+1 OkbC-T – 1.9%, 2143AT – 1.8%, 2184insA – 1,8%, R334W – 0.7%, S1196X – 0.7%, 394ATT – 0.4%, 1677ATA – 0.5%, G551D – 0.3%. Other screened mutations have not been identified in our sample. The above mentioned 13 mutations account for 75% of all OF alleles of Russian patients. It seems that it is possible to distinguish a nucleos of common “Slavic” mutations (CFTRdele2.3(21kb), 2143AT, 21S4insA) but their origin and history of distribution should be clarified further. Still about 25% of OF alleles are remained to be identified in Russian- population and only for 56% of OF patients the full OF genotype could be recognized. In families where one or both parents have unidentified mutations analysis of inter- andintragenic DNA markers have been exploited to complete genetic testing. As a result the informativity close to 100% could be obtained for all families with the OF child.
About the Authors
N. V. Petrova
Медико-генетический центр РАМН
Russian Federation
Russian Federation
E. K. Ginter
Медико-генетический центр РАМН
Russian Federation
Russian Federation
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Review
For citations:
Petrova N.V., Ginter E.K. Ten years of molecular genetic diagnosis of cystic fibrosis in Russian patients. PULMONOLOGIYA. 2001;(3):17-20. (In Russ.)
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