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Titolo:
HIGH-INCIDENCE OF CYSTIC-FIBROSIS ON THE FAROE ISLANDS - A MOLECULAR AND GENEALOGICAL STUDY
Autore:
SCHWARTZ M; SORENSEN N; BRANDT NJ; HOGDALL E; HOLM T;
Indirizzi:
RIGSHOSP,DEPT PAEDIAT,CLIN GENET SECT,4062,BLEGDAMSVEJ 9 DK-2100 COPENHAGEN DENMARK STATENS SERUM INST,MOLEC BIOL LAB DK-2300 COPENHAGEN DENMARK STATENS SERUM INST,DEPT CLIN BIOCHEM DK-2300 COPENHAGEN DENMARK STATE HOSP,DEPT OBSTET & GYNECOL TORSHAVN DENMARK
Titolo Testata:
Human genetics
fascicolo: 6, volume: 95, anno: 1995,
pagine: 703 - 706
SICI:
0340-6717(1995)95:6<703:HOCOTF>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
DELTA-F508 MUTATION; FREQUENCY; DENMARK; AMPLIFICATION; POLYMERASE; POPULATION; SURVIVAL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
M. Schwartz et al., "HIGH-INCIDENCE OF CYSTIC-FIBROSIS ON THE FAROE ISLANDS - A MOLECULAR AND GENEALOGICAL STUDY", Human genetics, 95(6), 1995, pp. 703-706

Abstract

We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1953-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of Delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimatedto be 1:24, giving a calculated incidence of 1:2300, Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that Delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 06:33:35