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THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS
Author(s): MORRAL N, BERTRANPETIT J, ESTIVILL X, NUNES V, CASALS T, GIMENEZ J, REIS A, VARONMATEEVA R, MACEK M, KALAYDJIEVA L, ANGELICHEVA D, DANCHEVA R, ROMEO G, RUSSO MP, GARNERONE S, RESTAGNO G, FERRARI M, MAGNANI C, CLAUSTRES M, DESGEORGES M, SCHWARTZ M, SCHWARZ M, DALLAPICCOLA B, NOVELLI G, FEREC C, DEARCE M, NEMETI M, KERE T, ANVRET M, DAHL N, KADASI L
Source: NATURE GENETICS    Volume: 7    Issue: 2    Pages: 169-175    Published: JUN 1994  
Times Cited: 188     References: 36     
Abstract: Delta F508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and evolution of Delta F508 chromosomes in Europe. Haplotype data demonstrate that Delta F508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of Delta F508 in Europe.
Document Type: Article
Language: English
Addresses:
1. HOSP DURAN & REYNALS, INST RECERCA ONCOL, E-08907 BARCELONA, SPAIN
2. UNIV BARCELONA, BARCELONA, SPAIN
3. FREE UNIV BERLIN, W-1000 BERLIN, GERMANY
4. CHARLES UNIV, PRAGUE, CZECH REPUBLIC
5. UNIV SOFIA, HOSP OBSTET, BU-1126 SOFIA, BULGARIA
6. IST GIANNINA GASLINI, I-16148 GENOA, ITALY
7. UNIV TURIN, TURIN, ITALY
8. IST SCI HS RAFFAELE, MILAN, ITALY
9. INST BIOL, MONTPELLIER, FRANCE
10. RIGSHOSP, DK-2100 COPENHAGEN, DENMARK
11. ROYAL MANCHESTER CHILDRENS HOSP, MANCHESTER, LANCS ENGLAND
12. UNIV ROME, ROME, ITALY
13. CTR BIOGENET, BREST, FRANCE
14. UNIV DUBLIN, DUBLIN, IRELAND
15. SEMMELWEIS UNIV MED, SCH MED, BUDAPEST, HUNGARY
16. CHILDRENS HOSP, OAKLAND, CA 94609 USA
17. UNIV HELSINKI, HELSINKI, FINLAND
18. KAROLINSKA HOSP, S-10401 STOCKHOLM, SWEDEN
19. UNIV UPPSALA, UPPSALA, SWEDEN
20. UNIV BRATISLAVA, BRATISLAVA, SLOVAKIA
Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707
Subject Category: Genetics & Heredity
IDS Number: NQ037
ISSN: 1061-4036
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