Document Detail


Neonatal screening for the cystic fibrosis main mutation delta F508 in Estonia.
MedLine Citation:
PMID:  9575453     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In this pilot study the frequency of delta F508 mutation carriers, their geographic distribution, and the prevalence of cystic fibrosis (CF) in Estonia were investigated. During the screening programme 7396 newborns were tested for delta F508 mutation and 88 were found to carry this deletion. The mean frequency of delta F508 mutation carriers in Estonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies differed significantly (p = 0.0369), with the highest incidence (1:36) on the Baltic Sea islands and western coastal region and with the lowest in south eastern parts of Estonia.
Authors:
T Klaassen; M Teder; M Viikmaa; A Metspalu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical screening     Volume:  5     ISSN:  0969-1413     ISO Abbreviation:  J Med Screen     Publication Date:  1998  
Date Detail:
Created Date:  1998-06-08     Completed Date:  1998-06-08     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9433359     Medline TA:  J Med Screen     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  16-9     Citation Subset:  IM    
Affiliation:
Institute of Molecular and Cell Biology, Tartu University, Estonian Biocentre, Estonia.
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MeSH Terms
Descriptor/Qualifier:
Cystic Fibrosis / diagnosis,  epidemiology,  genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Estonia / epidemiology
Heterozygote Detection*
Humans
Infant, Newborn
Mutation*
Neonatal Screening*
Pilot Projects
Polymerase Chain Reaction
Chemical
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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