Summary
Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the ΔF508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1–2]) haplotype was increased in both ΔF508 and nonΔF508 CF chromosomes (98% and 46%, respectively). These results support the view that the trans-European gradient of the ΔF508 frequency is of a geographical rather than of an ethnic origin, and that in Slavonic populations, there exists an as yet unidentified but frequent CF mutation other than ΔF508, associated with the B haplotype.
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Baranov VS, Ivaschenko TE, Gorbunova VN, Livshitz LA, Venozinskis MT, Gembovskaya SA, Kalinin VN, Romanenko OP, Gembitzkaya TE, Orlov AV, Kapranov NN, Lebedev VM, Mihailov AV, Pigina TV, Skwed NY (1991) Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR. Hum Genet 87:61–64
Chakravarti, Buetov KH, Antonorakis SE, Waber PG, Boehm CD, Kazazian HH (1984) Non-uniform recombination within the human β-globin gene cluster. Am J Genet 36:1239–1258
Cystic Fibrosis Genetic Analysis Consortium (1990) Worldwide survey of the ΔF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium. Am J Hum Genet 57:354–359
Estivill L, Farral M, Scambler PJ, Bell GM, Hawley KMF, Lench MJ, Bates GP, Kruyer HC, Frederick PA, Stainer P, Watson EW, Williamson R, Wainwright BJ (1987) A candidate for the cystic fibrosis locus isolated by selection for methylation free islands. Nature 326:840–845
Grade K, Will K, Szibor R, Gedschold J, Bruckner R, Bauer I, Giermann K, Gorki H, Hein J, Brell U, Coutelle C (1990) First analysis of the F508 deletion in cystic fibrosis patients from the GDR. Hum Genet 85:406–407
Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073–1079
Macek M, Vavrová V, Böhm J, Stuhrmann M, Reis A, Duspivová R, Macek M, Sperling K, Krawczak M, Schmidtke J (1990) Frequeny of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families. Hum Genet 85:417–418
Mathew CG, Roberts RG, Harris A, Bentley DR, Bobrow M (1989) Rapid screening for ΔF508 deletion in cystic fibrosis. Lancet II:1346
Riordan JR, Rommens JM, Kerem BS, Alon M, Rozmahle R, Grzelczak Z, Zielenski J, Lok S, Plavsic M, Chon JZ, Drumm ML, Iannuzii MC, Collins FS, Tusi LC (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245:1066–1072
Rommens JM, Iannuzii MC, Kerem BS, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JZ, Kennedy D, Hidaka M, Zsiga M, Buchwald M, Riordan JR, Tsui LC, Collins F (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059–1065
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Kádasi, L., Gécz, J., Matúšek, J. et al. Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients. Hum Genet 89, 305–306 (1992). https://doi.org/10.1007/BF00220546
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DOI: https://doi.org/10.1007/BF00220546