Literature DB >> 1284639

Detection of over 98% cystic fibrosis mutations in a Celtic population.

C Férec1, M P Audrezet, B Mercier, H Guillermit, P Moullier, I Quere, C Verlingue.   

Abstract

We have conducted a large systematic study of 365 cystic fibrosis (CF) chromosomes in a Celtic population from Brittany, France, in which we have been able to identify more than 98% of the cystic fibrosis gene mutations. We detected 19 different CFTR mutations located in 9 exons. Eleven of these mutations have not been described previously and nine of them are presented in this study. The denaturing gradient gel electrophoresis strategy we have used, can be applied to other populations suggesting that population screening for CF on a large scale might be possible.

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Year:  1992        PMID: 1284639     DOI: 10.1038/ng0692-188

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  43 in total

1.  Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.

Authors:  Virginie Scotet; Marie-Pierre Audrézet; Michel Roussey; Gilles Rault; Martine Blayau; Marc De Braekeleer; Claude Férec
Journal:  Hum Genet       Date:  2003-05-27       Impact factor: 4.132

2.  Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.

Authors:  C R Scriver; T M Fujiwara
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

3.  A mutation in exon 7 of the CFTR gene is common in the western part of France.

Authors:  M P Audrezet; B Mercier; H Guillermit; C Ferec
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

4.  A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

Authors:  Valeria Faà; Pietro Pellegrini Bettoli; Maria Demurtas; Maurizio Zanda; Vincenzina Ferri; Antonio Cao; Maria Cristina Rosatelli
Journal:  J Mol Diagn       Date:  2006-09       Impact factor: 5.568

5.  Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Authors:  F Muller; M Dommergues; B Simon-Bouy; C Ferec; J F Oury; M C Aubry; R Bessis; E Vuillard; E Denamur; T Bienvenu; J L Serre
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

6.  A novel mutation in exon 3 of the CFTR gene.

Authors:  H Guillermit; M Jéhanne; I Quéré; M P Audrézet; B Mercier; C Férec
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

7.  Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Authors:  J Zielenski; T M Fujiwara; D Markiewicz; A J Paradis; A I Anacleto; B Richards; R H Schwartz; K W Klinger; L C Tsui; K Morgan
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

8.  Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

Authors:  V Brancolini; L Cremonesi; E Belloni; E Pappalardo; R Bordoni; M Seia; S Russo; R Padoan; A Giunta; M Ferrari
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

9.  CF2603/4delT, a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  B Ezquieta; J Molano
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

10.  Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

Authors:  J Yaouanq; M Perichon; M Chorney; P Pontarotti; A Le Treut; A el Kahloun; V Mauvieux; M Blayau; A M Jouanolle; B Chauvel
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

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