Literature DB >> 1937479

Analysis of 14 cystic fibrosis mutations in five south European populations.

V Nunes1, P Gasparini, G Novelli, A Gaona, A Bonizzato, F Sangiuolo, A Balassopoulou, F J Giménez, M Dognini, M Ravnik-Glavac.   

Abstract

We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from delta F508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1% (R347P, R334W, S549RA, S549I, G551D, R553X and W1282X), and four mutations (D110H, delta I507, S549RT, and S1255X) were not found in this sample. The data presented here allows the use of mutation analysis in 69.5% of Spanish, 58% of Greek, and 56.5% of Italian CF cases.

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Year:  1991        PMID： 1937479     DOI： 10.1007/bf00201737

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  Population analysis of the major mutation in cystic fibrosis.

Authors: 
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

2.  The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

Authors:  P Gasparini; V Nunes; A Savoia; M Dognini; N Morral; A Gaona; A Bonizzato; M Chillon; F Sangiuolo; G Novelli
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

3.  A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.

Authors:  F Sangiuolo; G Novelli; S Murru; B Dallapiccola
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

4.  Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium.

Authors: 
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

5.  A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

Authors:  L Osborne; R Knight; G Santis; M Hodson
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

6.  Delta F508 gene deletion in cystic fibrosis in southern Europe.

Authors:  X Estivill; M Chillon; T Casals; A Bosch; N Morral; V Nunes; P Gasparini; A Seia; P F Pignatti; G Novelli
Journal:  Lancet       Date:  1989-12-09       Impact factor: 79.321

7.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

8.  Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

Authors:  M Vidaud; P Fanen; J Martin; N Ghanem; S Nicolas; M Goossens
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

9.  A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.

Authors:  G R Cutting; L M Kasch; B J Rosenstein; J Zielenski; L C Tsui; S E Antonarakis; H H Kazazian
Journal:  Nature       Date:  1990-07-26       Impact factor: 49.962

10.  Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.

Authors:  M Dean; M B White; J Amos; B Gerrard; C Stewart; K T Khaw; M Leppert
Journal:  Cell       Date:  1990-06-01       Impact factor: 41.582
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  19 in total

1.  A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.

Authors:  V Nunes; A Bonizzato; A Gaona; M Dognini; M Chillón; T Casals; P F Pignatti; G Novelli; X Estivill; P Gasparini
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

Authors:  D Abeliovich; I P Lavon; I Lerer; T Cohen; C Springer; A Avital; G R Cutting
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

3.  Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

Authors:  M Claustres; M Desgeorges; P Kjellberg; C Tissot; J Demaille
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

4.  Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.

Authors:  M Chillón; T Casals; J Giménez; M D Ramos; A Palacio; N Morral; X Estivill; V Nunes
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

5.  Genetic analysis of Hispanic individuals with cystic fibrosis.

Authors:  T A Grebe; W K Seltzer; J DeMarchi; D K Silva; W W Doane; D Gozal; S F Richter; C M Bowman; R A Norman; S N Rhodes
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

6.  Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)

Authors:  E A Parizotto; C S Bertuzzo
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

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.  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

9.  Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

Authors:  P Gasparini; G Borgo; G Mastella; A Bonizzato; M Dognini; P F Pignatti
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

10.  Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.

Authors:  C Ober; L A Lester; C Mott; C Billstrand; A Lemke; K van der Ven; S Marcus; J Kraut; J Lloyd-Still; C Booth
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
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