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Comparative analysis of deletion F508 frequency in fibrosis patients
- Institute of Obstetrics and Gynecology, Academy of Medical Sciences of the USSR
- Institute of Molecular Biology and Genetics, Academy of Sciences of the Ukrainian SSR
The ferquency of F508deletion has been studies by polymerase chain reaction in 114 CF patients of North-West part of the USSR, in 31 CF patients from Ukraina, 14 from Moldovia and 8 from Lithuania. 77 % of CF choromosomes from Ukrainian CF patients with severe mixed pancreatic-pulmonar forms of disease and 65 % CF chromosomes of similar CF patients from North-Western part of the USSR carried ΔF508 while its frequency in Moldavian and Lithuania CF patients was significantly less (26 and 25 % respectively). 96% Slavonian patients of North-Western part and 92% Slavonian CF patients from Ukraina were either heterozygos or homozygos for the deletion F508. 90 % of F508chromosomes possessed haplotype 2, 2, 2, 1 for polymorphic sites KM19, CS7, MP6d9, XV2c, respectively. Obvions significance at these data for the most effective pre- and postnatal diagnosis of CF and carrier detection is discussed.
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