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Geographic distribution and origin of CFTR mutations in Germany |
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| Authors: | B. Tümmler T. Storrs V. Dziadek T. Dörk B. Tümmler H. von der Hardt T. Meitinger A. Golla R. M. Bertele-Harms H. K. Harms E. Schröder A. Claaß J. Rutjes R. Scheppenheim I. Bauer K. Breuel M. Stuhrmann J. Schmidke M. Linder A. Eigel J. Horst R. Kaiser M. J. Lentze K. Schmidt X. Estivill |
| Affiliation: | 1. Klinische Forschergruppe, “Molekulare Pathologie der Mukoviszidose”, Zentrum Biochemie und Zentrum Kinderheilkunde, OE 4350, Medizinische Hochschule Hannover, D-30623, Hanover, Germany 2. Kinderklinik, Medizinische Hochschule Hannover, Hanover, Germany 3. Abteilung für P?diatrische Genetik der Kinderpoliklinik, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universit?t, Munich, Germany 4. Behandlungszentrum für Mukoviszidose, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universit?t, Munich, Germany 5. Institut für Humangenetik und Anthropologie, Heinrich-Heine-Universit?t, Düsseldorf, Germany 6. Kinderklinik der Christian-Albrechts-Universit?t zu Kiel, Kiel, Germany 7. Abteilung für Medizinische Genetik, Universit?t Rostock, Rostock, Germany 8. Kinderklinik, Universit?t Rostock, Rostock, Germany 9. Abteilung für Humangenetik, Medizinische Hochschule Hannover, Hanover, Germany 10. Abt. P?diatrie II, Universit?tskinderklinik Ulm, Germany 11. Institut für Humangenetik, Westf?lische Wilhelms-Universit?t, Münster, Germany 12. Institut für Medizinische Mikrobiologie, Universit?t Bonn, Bonn, Germany 13. Kinderklinik, Universit?t Bonn, Bonn, Germany 14. Kinderklinik der St?+dtischen Krankenanstalten Esslingen, Esslingen, Germany 15. Molecular Genetics Department, Cancer Research Institute, Barcelona, Spain |
| 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. Received: 10 October 1995 / Revised: 9 January 1995 |
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