Abstract
The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents' birthplace, 74% of CF chromosomes had their origin in Germany; the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today's Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.
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References
Dörk T, Fislage R, Rappen U, Tümmler B (1993) Severe splice site mutation preceding exon 9 of the CFTR gene. Hum Mol Genet 2: 1313–1314
Grade K, Will K, Szibor R, Gedschold J, Brückner 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
Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittell L, Friedman KJ, Silverman LM, Boucher RC, Knowles MR (1994) A novel mutation in the cystic fibrosis gene with pulmonary disease but normal sweat chloride concentration. N Engl J Med 331: 974–980
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: 1073–1080
Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem BS (1992) Association of a nonsense mutation (W 1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 50: 222–228
The Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mutat 4:167–177
Welsh MJ, Tsui LC, Boat TF, Beaudet AL (1995) Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3799–3876
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Tümmler, B., Storrs, T., Dziadek, V. et al. Geographic distribution and origin of CFTR mutations in Germany. Hum Genet 97, 727–731 (1996). https://doi.org/10.1007/BF02346181
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DOI: https://doi.org/10.1007/BF02346181