Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR)

Identification of a 50 kilobase deletion

Núria Morral, Virginia Nunes, Teresa Casals, Nicolás Cobos, Oscar Asensio, Javier Dapena, Xavier P. Estivill

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

More than 250 mutations have been detected in the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, most of which are single point mutations or small deletions or insertions of a few nucleotides. Here we report the first large deletion identified in the CFTR gene, which involves 50 kb in two stretches of DNA: one of 10 kb from exon 4 to exon 7, and another of 40 kb, spanning exons 11 to 18. The deletion has been detected via uniparental inheritance of CFTR microsatellite alleles (IVS17BTA and IVS17BCA) in 3 independent CF families. Clinical status of the 3 CF patients, of which two have the ΔF508 mutation as the other CF allele, suggests that this mutation is responsible for a severe clinical phenotype, indistinguishable from homozygous ΔF508 patients. The deletion detected here suggests that other large, but less complex molecular defects could also exist in the CFTR gene.

Original languageEnglish
Pages (from-to)677-681
Number of pages5
JournalHuman Molecular Genetics
Volume2
Issue number6
DOIs
Publication statusPublished - Jun 1993
Externally publishedYes

Fingerprint

Cystic Fibrosis
Microsatellite Repeats
Regulator Genes
Alleles
Exons
Mutation
Genes
Point Mutation
Nucleotides
Phenotype
DNA

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR) : Identification of a 50 kilobase deletion. / Morral, Núria; Nunes, Virginia; Casals, Teresa; Cobos, Nicolás; Asensio, Oscar; Dapena, Javier; Estivill, Xavier P.

In: Human Molecular Genetics, Vol. 2, No. 6, 06.1993, p. 677-681.

Research output: Contribution to journalArticle

Morral, Núria ; Nunes, Virginia ; Casals, Teresa ; Cobos, Nicolás ; Asensio, Oscar ; Dapena, Javier ; Estivill, Xavier P. / Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR) : Identification of a 50 kilobase deletion. In: Human Molecular Genetics. 1993 ; Vol. 2, No. 6. pp. 677-681.
@article{0ff7029b3f55401e95b913bdab516d14,
title = "Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): Identification of a 50 kilobase deletion",
abstract = "More than 250 mutations have been detected in the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, most of which are single point mutations or small deletions or insertions of a few nucleotides. Here we report the first large deletion identified in the CFTR gene, which involves 50 kb in two stretches of DNA: one of 10 kb from exon 4 to exon 7, and another of 40 kb, spanning exons 11 to 18. The deletion has been detected via uniparental inheritance of CFTR microsatellite alleles (IVS17BTA and IVS17BCA) in 3 independent CF families. Clinical status of the 3 CF patients, of which two have the ΔF508 mutation as the other CF allele, suggests that this mutation is responsible for a severe clinical phenotype, indistinguishable from homozygous ΔF508 patients. The deletion detected here suggests that other large, but less complex molecular defects could also exist in the CFTR gene.",
author = "N{\'u}ria Morral and Virginia Nunes and Teresa Casals and Nicol{\'a}s Cobos and Oscar Asensio and Javier Dapena and Estivill, {Xavier P.}",
year = "1993",
month = "6",
doi = "10.1093/hmg/2.6.677",
language = "English",
volume = "2",
pages = "677--681",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "6",

}

TY - JOUR

T1 - Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR)

T2 - Identification of a 50 kilobase deletion

AU - Morral, Núria

AU - Nunes, Virginia

AU - Casals, Teresa

AU - Cobos, Nicolás

AU - Asensio, Oscar

AU - Dapena, Javier

AU - Estivill, Xavier P.

PY - 1993/6

Y1 - 1993/6

N2 - More than 250 mutations have been detected in the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, most of which are single point mutations or small deletions or insertions of a few nucleotides. Here we report the first large deletion identified in the CFTR gene, which involves 50 kb in two stretches of DNA: one of 10 kb from exon 4 to exon 7, and another of 40 kb, spanning exons 11 to 18. The deletion has been detected via uniparental inheritance of CFTR microsatellite alleles (IVS17BTA and IVS17BCA) in 3 independent CF families. Clinical status of the 3 CF patients, of which two have the ΔF508 mutation as the other CF allele, suggests that this mutation is responsible for a severe clinical phenotype, indistinguishable from homozygous ΔF508 patients. The deletion detected here suggests that other large, but less complex molecular defects could also exist in the CFTR gene.

AB - More than 250 mutations have been detected in the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, most of which are single point mutations or small deletions or insertions of a few nucleotides. Here we report the first large deletion identified in the CFTR gene, which involves 50 kb in two stretches of DNA: one of 10 kb from exon 4 to exon 7, and another of 40 kb, spanning exons 11 to 18. The deletion has been detected via uniparental inheritance of CFTR microsatellite alleles (IVS17BTA and IVS17BCA) in 3 independent CF families. Clinical status of the 3 CF patients, of which two have the ΔF508 mutation as the other CF allele, suggests that this mutation is responsible for a severe clinical phenotype, indistinguishable from homozygous ΔF508 patients. The deletion detected here suggests that other large, but less complex molecular defects could also exist in the CFTR gene.

UR - http://www.scopus.com/inward/record.url?scp=0027280227&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027280227&partnerID=8YFLogxK

U2 - 10.1093/hmg/2.6.677

DO - 10.1093/hmg/2.6.677

M3 - Article

VL - 2

SP - 677

EP - 681

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 6

ER -