Polymerase chain reaction in the analysis of deletion F-508 in cystic fibrosis
O. V. Voronina, V. S. Gaitskhoki, E. I. Schwartz, O. Yu. Potapova, Yu. A. Berlin, O. V. Plutalov, T. E. Gembitskaya
Institute of Experimental Medicine, Academy of Medical Sciences of the USSR, Leningrad; B. P. Konstantinov Institute of Nuclear Physics, Academy of Sciences of the USSR, Gatchina, Leningrad Region; M. M. Shemyakin Institute of Bioorganic Chemistry, Academy of Sciences of the USSR, Moscow; Institute of Pulmonology, Ministry of Health of the USSSR, Leningrad
Abstract: Search for the F-503 deletion in the cystic fibrosis (CF) locus in patients with different forms of this disease has been carried out using polymerase chain reaction followed by gel-electrophoretic characterization of the amplified fragments. This mutation is shown to be associated preferentially with pancreatic insufficiency as the main trait of CF phenotype < (45% homozygotes and 30% heterozygotes) in F-508 among CF patients with pancreatic disorder). On the other hand, in CF patients with pancreatic sufficiency this mutation was detected rarely and only in the heterozygous state (20% patients).
Russian Journal of Bioorganic Chemistry 1990, 16 (10):1430-1431