Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients

C. Férec, G. Novelli, C. Verlingue, I. Quéré, B. Dallapiccola, M. P. Audrézet, B. Mercier

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation,ΔF508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequence of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of Italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A→T). Each has only been found once in this sample of CF patients.

Original languageEnglish
Pages (from-to)135-137
Number of pages3
JournalMolecular and Cellular Probes
Volume9
Issue number2
DOIs
Publication statusPublished - 1995

Fingerprint

Cystic Fibrosis
Mutation
Chromosomes
Alleles
Denaturing Gradient Gel Electrophoresis
Population
Genes

Keywords

  • CFTR
  • cystic fibrosis
  • rare mutations
  • screening

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. / Férec, C.; Novelli, G.; Verlingue, C.; Quéré, I.; Dallapiccola, B.; Audrézet, M. P.; Mercier, B.

In: Molecular and Cellular Probes, Vol. 9, No. 2, 1995, p. 135-137.

Research output: Contribution to journalArticle

Férec, C. ; Novelli, G. ; Verlingue, C. ; Quéré, I. ; Dallapiccola, B. ; Audrézet, M. P. ; Mercier, B. / Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. In: Molecular and Cellular Probes. 1995 ; Vol. 9, No. 2. pp. 135-137.
@article{86948b4678db40028948e22105644132,
title = "Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients",
abstract = "The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation,ΔF508, accounts for only about 50{\%} of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequence of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of Italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A→T). Each has only been found once in this sample of CF patients.",
keywords = "CFTR, cystic fibrosis, rare mutations, screening",
author = "C. F{\'e}rec and G. Novelli and C. Verlingue and I. Qu{\'e}r{\'e} and B. Dallapiccola and Audr{\'e}zet, {M. P.} and B. Mercier",
year = "1995",
doi = "10.1016/S0890-8508(95)80038-7",
language = "English",
volume = "9",
pages = "135--137",
journal = "Molecular and Cellular Probes",
issn = "0890-8508",
publisher = "Academic Press Inc.",
number = "2",

}

TY - JOUR

T1 - Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients

AU - Férec, C.

AU - Novelli, G.

AU - Verlingue, C.

AU - Quéré, I.

AU - Dallapiccola, B.

AU - Audrézet, M. P.

AU - Mercier, B.

PY - 1995

Y1 - 1995

N2 - The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation,ΔF508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequence of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of Italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A→T). Each has only been found once in this sample of CF patients.

AB - The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation,ΔF508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequence of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of Italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A→T). Each has only been found once in this sample of CF patients.

KW - CFTR

KW - cystic fibrosis

KW - rare mutations

KW - screening

UR - http://www.scopus.com/inward/record.url?scp=0029040369&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029040369&partnerID=8YFLogxK

U2 - 10.1016/S0890-8508(95)80038-7

DO - 10.1016/S0890-8508(95)80038-7

M3 - Article

VL - 9

SP - 135

EP - 137

JO - Molecular and Cellular Probes

JF - Molecular and Cellular Probes

SN - 0890-8508

IS - 2

ER -