Spatial patterns of cystic fibrosis mutation spectra in European populations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-05

AUTHORS

Oscar Lao, Aida M Andrés, Eva Mateu, Jaume Bertranpetit, Francesc Calafell

ABSTRACT

Cystic fibrosis (CF) is the most frequent severe recessive disorder in European populations. We have analyzed its mutation frequency spectrum in 94 European, North African and SW Asian populations taken from the literature. Most major mutations as well as the incidence of CF mutations showed clinals patterns as demonstrated by autocorrelogram analysis. More importantly, measures of mutation diversity did also show clinal patterns, with mutation spectra being more diverse in southern than in northern Europe. This increased diversity would imply roughly a three-fold long-term effective population size in southern than in northern Europe. Distances were computed among populations based on their CF mutation frequencies and compared with distances based on other genic regions. CF-based distances correlated with mtDNA but not with Y-chromosome-based distances, which may be a consequence of the relatively homogeneous CF mutation frequencies in European populations. More... »

PAGES

5200970

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200970

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200970

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032767274

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12734544


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200970'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200970'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200970'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200970'


 

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