Biopolym. Cell. 1991; 7(3):49-54.
http://dx.doi.org/10.7124/bc.0002CF
Comparative analysis of deletion F508 frequency in fibrosis patients
1Ivaschenko T. E., 2Livshitz L. A., 1Gembovskaya S. A., 1Amoashiy D. S., 1Venozinskis M. T., 1Gorbunova V. N., 1Baranov V. S.
  1. Institute of Obstetrics and Gynecology, Academy of Medical Sciences of the USSR
    Leningrad, USSR
  2. Institute of Molecular Biology and Genetics, Academy of Sciences of the Ukrainian SSR
    Kiev, USSR

Abstract

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.
Full text: (PDF, in Russian)

References

[1] Kapranov HYa. Course and outcome of cystic fibrosis in children after modern treatment and rehabilitation: Author. dis .... Dr. med. Sciences. M., 1986. 37 p.
[2] Morris M., Super M. Cystic fibrosis. The facts. Oxford: Univ. press, 1987. 264 p.
[3] Estivill X, Farrall M, Williamson R, Ferrari M, Seia M, Giunta AM, Novelli G, Potenza L, Dallapicolla B, Borgo G, et al. Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet. 1988;43(1):23-8.
[4] Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245(4922):1059-65.
[5] Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245(4922):1066-73.
[6] Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245(4922):1073-80.
[7] Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). Hum Genet. 1990;85(4):436-45.
[8] Ivashchenko TE, Gorbunova VN, Aseev MV, Baranov VS, Vinogradov SV, Berlin YuA, Goltzov AA, Kaboev OK, Schwartz EI. Analysis of restriction polymorphism of D7S23 locus by polymerase chain reaction with KM-19 probe in population and cystic fibrosis families. Biopolym Cell. 1990; 6(2):55-60.
[9] Kere J, Norio R, Savilahti E, Estivill X, de la Chapelle A. Cystic fibrosis in Finland: a molecular and genealogical study. Hum Genet. 1989;83(1):20-5.