Geographic distribution and origin of CFTR mutations in Germany

Springer Science and Business Media LLC - Tập 97 - Trang 727-731 - 1996
B. Tümmler1, T. Storrs1, V. Dziadek1, T. Dörk1, H. von der Hardt2, T. Meitinger3, A. Golla3, R. M. Bertele-Harms4, H. K. Harms4, E. Schröder5, A. Claaß6, J. Rutjes6, R. Scheppenheim6, I. Bauer7, K. Breuel8, M. Stuhrmann9, J. Schmidke9, M. Linder10, A. Eigel11, J. Horst11, R. Kaiser12, M. J. Lentze13, K. Schmidt14, X. Estivill15
1Klinische Forschergruppe, “Molekulare Pathologie der Mukoviszidose”, Zentrum Biochemie und Zentrum Kinderheilkunde, OE 4350, Medizinische Hochschule Hannover, Hanover, Germany
2Kinderklinik, Medizinische Hochschule Hannover, Hanover, Germany
3Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universität, Munich, Germany
4Behandlungszentrum für Mukoviszidose, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universität, Munich, Germany
5Institut für Humangenetik und Anthropologie, Heinrich-Heine-Universität, Düsseldorf, Germany
6Kinderklinik der Christian-Albrechts-Universität zu Kiel, Kiel, Germany
7Abteilung für Medizinische Genetik, Universität Rostock, Rostock, Germany
8Kinderklinik, Universität Rostock, Rostock, Germany
9Abteilung für Humangenetik, Medizinische Hochschule Hannover, Hanover, Germany
10Abt. Pädiatrie II, Universitätskinderklinik Ulm, Germany
11Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany
12Institut für Medizinische Mikrobiologie, Universität Bonn, Bonn, Germany
13Kinderklinik, Universität Bonn, Bonn, Germany
14Kinderklinik der Stä+dtischen Krankenanstalten Esslingen, Esslingen, Germany
15Molecular Genetics Department, Cancer Research Institute Barcelona, Spain

Tóm tắt

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.

Tài liệu tham khảo

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Springer Science and Business Media LLC

Tập 97

727-731

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