ArticleAmerican journal of human genetics2001
Worldwide genetic analysis of the CFTR region.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 61 citations in OpenAlex.
- Innovative Therapies for Cystic Fibrosis: The Road from Treatment to Cure.Molecular diagnosis & therapy · 2019Review
- Recombination networks as genetic markers in a human variation study of the Old World.Human genetics · 2012Article
- An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.Genes and immunity · 2009Article
- Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD.BMC genomics · 2009Article
- Evolutionary dynamics of the human ABO gene.Human genetics · 2008Article
- Effect of single nucleotide polymorphisms on Affymetrix match-mismatch probe pairs.Bioinformation · 2008Article
- Testing for homogeneity of gametic disequilibrium across strata.BMC genetics · 2007Article
- Understanding the accuracy of statistical haplotype inference with sequence data of known phase.Genetic epidemiology · 2007Article
- Signatures of demographic history and natural selection in the human major histocompatibility complex Loci.Genetics · 2006Article
- A haplotype framework for cystic fibrosis mutations in Iran.The Journal of molecular diagnostics : JMD · 2006Article
- Extreme population differences across Neuregulin 1 gene, with implications for association studies.Molecular psychiatry · 2006Article
- Haplotype tagging efficiency in worldwide populations in CTLA4 gene.Genes and immunity · 2005Article
- Evaluation of microsatellite markers in association studies: a search for an immune-related susceptibility gene in sarcoidosis.Immunogenetics · 2005Article
- Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.The Journal of molecular diagnostics : JMD · 2005Article
- Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22.Human genomics · 2004Article
- Structural analysis of insulin minisatellite alleles reveals unusually large differences in diversity between Africans and non-Africans.American journal of human genetics · 2002Article
- Article
- Can a place of origin of the main cystic fibrosis mutations be identified?American journal of human genetics · 2002Article
- Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels.American journal of human genetics · 2001Article
- Initial sequencing and analysis of the human genome.Nature · 2001Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations at the cystic fibrosis transmembrane conductance regulator gene (CFTR) cause cystic fibrosis, the most prevalent severe genetic disorder in individuals of European descent. We have analyzed normal allele and haplotype variation at four short tandem repeat polymorphisms (STRPs) and two single-nucleotide polymorphisms (SNPs) in CFTR in 18 worldwide population samples, comprising a total of 1,944 chromosomes. The rooted phylogeny of the SNP haplotypes was established by typing ape samples. STRP variation within SNP haplotype backgrounds was highest in most ancestral haplotypes-although, when STRP allele sizes were taken into account, differences among haplotypes became smaller. Haplotype background determines STRP diversity to a greater extent than populations do, which indicates that haplotype backgrounds are older than populations. Heterogeneity among STRPs can be understood as the outcome of differences in mutation rate and pattern. STRP sites had higher heterozygosities in Africans, although, when whole haplotypes were considered, no significant differences remained. Linkage disequilibrium (LD) shows a complex pattern not easily related to physical distance. The analysis of the fraction of possible different haplotypes not found may circumvent some of the methodological difficulties of LD measure. LD analysis showed a positive correlation with locus polymorphism, which could partly explain the unusual pattern of similar LD between Africans and non-Africans. The low values found in non-Africans may imply that the size of the modern human population that emerged "Out of Africa" may be larger than what previous LD studies suggested.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.