Literature DB >> 11556136

Do delta F508 heterozygotes have a selective advantage?

C Wiuf1.   

Abstract

In this paper the fitness of the delta F508 heterozygote is assessed and the age of the delta F508 mutation in the cystic fibrosis locus is estimated. Data from three microsatellite loci are applied. The analysis is performed conditional on the present-day frequency of the delta F508 mutation and based on assumptions about the demographic history of the European population and the mutation rate in the three microsatellite loci. It is shown that the data gives evidence of positive selection (up to 2-3% per delta F508 heterozygote), but also that data could be explained by negative selection of roughly the same order of magnitude. The age of the delta F508 mutation is subsequently estimated; it is found that the mutation is at least 580 generations old, but could be much older depending on the microsatellite mutation rate and the exact number of substitutions experienced in the history of the three microsatellite loci.

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Year:  2001        PMID: 11556136     DOI: 10.1017/s0016672301005195

Source DB:  PubMed          Journal:  Genet Res        ISSN: 0016-6723            Impact factor:   1.588


  13 in total

1.  Can a place of origin of the main cystic fibrosis mutations be identified?

Authors:  Eva Mateu; Francesc Calafell; Maria Dolors Ramos; Teresa Casals; Jaume Bertranpetit
Journal:  Am J Hum Genet       Date:  2001-11-16       Impact factor: 11.025

2.  Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.

Authors:  Cameron M Beech; Sandya Liyanarachchi; Nidhi P Shah; Amy C Sturm; May F Sadiq; Albert de la Chapelle; Stephan M Tanner
Journal:  Orphanet J Rare Dis       Date:  2011-11-13       Impact factor: 4.123

3.  Genetic signatures of strong recent positive selection at the lactase gene.

Authors:  Todd Bersaglieri; Pardis C Sabeti; Nick Patterson; Trisha Vanderploeg; Steve F Schaffner; Jared A Drake; Matthew Rhodes; David E Reich; Joel N Hirschhorn
Journal:  Am J Hum Genet       Date:  2004-04-26       Impact factor: 11.025

4.  The limits of fine-scale mapping.

Authors:  Lucian P Smith; Mary K Kuhner
Journal:  Genet Epidemiol       Date:  2009-05       Impact factor: 2.135

5.  Evaluating candidate agents of selective pressure for cystic fibrosis.

Authors:  Eric M Poolman; Alison P Galvani
Journal:  J R Soc Interface       Date:  2007-02-22       Impact factor: 4.118

6.  Cystic fibrosis in Sudanese children: First report of 35 cases.

Authors:  Salah A Ibrahim; Munadhil A Fadl Elmola; Zain A Karrar; Ali M E Arabi; Mohamed A Abdullah; Sulafa K Ali; Fathelrahman Elawad; Tag Elsir A Ali; Mashair B Abdulrahman; Salma O Ahmed; Abelrazzag S Gundi
Journal:  Sudan J Paediatr       Date:  2014

7.  Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?

Authors:  David Fisman
Journal:  Proc Natl Acad Sci U S A       Date:  2020-01-28       Impact factor: 11.205

8.  Heterozygosity for the F508del mutation in the cystic fibrosis transmembrane conductance regulator anion channel attenuates influenza severity.

Authors:  Famke Aeffner; Basant Abdulrahman; Judy M Hickman-Davis; Paul M Janssen; Amal Amer; David M Bedwell; Eric J Sorscher; Ian C Davis
Journal:  J Infect Dis       Date:  2013-06-07       Impact factor: 5.226

Review 9.  Dominant versus recessive: molecular mechanisms in metabolic disease.

Authors:  Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2008-10-21       Impact factor: 4.982

10.  Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Authors:  Serena Schippa; Valerio Iebba; Floriana Santangelo; Antonella Gagliardi; Riccardo Valerio De Biase; Antonella Stamato; Serenella Bertasi; Marco Lucarelli; Maria Pia Conte; Serena Quattrucci
Journal:  PLoS One       Date:  2013-04-17       Impact factor: 3.240

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