ArticleAmerican journal of human genetics2002
Can a place of origin of the main cystic fibrosis mutations be identified?
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Percutaneous lines for delivering intravenous antibiotics in people with cystic fibrosis.The Cochrane database of systematic reviews · 2010Pooled it
- The design of mapping populations: Impacts of geographic scale on genetic architecture and mapping efficacy for defense and immunity.Current opinion in plant biology · 2023Review
- Accounting for population structure in genetic studies of cystic fibrosis.HGG advances · 2022Article
- Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.Genetics and molecular biology · 2021Article
- S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy.Italian journal of pediatrics · 2018Article
- Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran.Journal of reproduction & infertility · 2014Article
- CFTR activity and mitochondrial function.Redox biology · 2013Review
- Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.Orphanet journal of rare diseases · 2011Article
- Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran.Iranian journal of pediatrics · 2011Article
- Epithelial IgG and its relationship to the loss of F508 in the common mutant form of the cystic fibrosis transmembrane conductance regulator.FEBS letters · 2009Article
- Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2008Review
- A haplotype framework for cystic fibrosis mutations in Iran.The Journal of molecular diagnostics : JMD · 2006Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic background of the mutations that most often cause cystic fibrosis (CF) is different from that of non-CF chromosomes in populations of European origin. It is not known whether these haplotype backgrounds could be found at high frequencies in populations in which CF is, at present, not common; such populations would be candidates for the place of origin of CF mutations. An analysis of haplotypes of CF transmembrane conductance regulator, together with their variation in specific CF chromosomes, in a worldwide survey of normal chromosomes shows (1) a very low frequency or absence of the most common CF haplotypes in all populations analyzed and (2) a strong genetic variability and divergence, among various populations, of the chromosomes that carry disease-causing mutations. The depth of the gene genealogy associated with disease-causing mutations may be greater than that of the evolutionary process that gave rise to present-day human populations. The concept of "population of origin" lacks either spatial or temporal meaning for mutations that are likely to have been present in Europeans before the ethnogenesis of present populations; subsequent population processes may have erased the traces of their geographic origin.
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