First report of CFTR mutations in black cystic fibrosis patients of southern African origin

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dc.contributor.authorCarles S.
dc.contributor.authorDesgeorges M.
dc.contributor.authorGoldman A.
dc.contributor.authorThiart R.
dc.contributor.authorGuittard C.
dc.contributor.authorKitazos C.A.
dc.contributor.authorDe Ravel T.J.L.
dc.contributor.authorWestwood A.T.R.
dc.contributor.authorClaustres M.
dc.contributor.authorRamsay M.
dc.date.accessioned2011-05-15T16:03:35Z
dc.date.available2011-05-15T16:03:35Z
dc.date.issued1996
dc.description.abstractCystic fibrosis (CF) is thought to be rare in the black populations of Africa who have minimal white admixture. Only a few cases have been reported but have not been studied at the molecular level. We report the detection of CFTR mutations in three southern African black patients. One was homozygous for the 3120 + 1G → A mutation, while the other two were compound heterozygotes each with this mutation on one chromosome. The other mutations were G1249E and a previously unreported in frame 54 bp deletion within exon 17a involving nucleotides 3196-3249 (3196del54). The 3120 + 1G → A mutation was first described in American black patients and has been shown to be a common mutation in this population (9-14% of CF chromosomes). It was also found in a black CF patient whose father, the 3120 + 1G → A carrier, is from Cameroon. These data suggest that it is an old mutation which accounts for many of the CFTR mutations in African blacks.
dc.description.versionArticle
dc.identifier.citationJournal of Medical Genetics
dc.identifier.citation33
dc.identifier.citation9
dc.identifier.issn222593
dc.identifier.urihttp://hdl.handle.net/10019.1/12688
dc.subjecttransmembrane conductance regulator
dc.subjectarticle
dc.subjectcameroon
dc.subjectcase report
dc.subjectcontrolled study
dc.subjectcystic fibrosis
dc.subjectexon
dc.subjectfather
dc.subjectgene deletion
dc.subjectgene mutation
dc.subjectheterozygote
dc.subjecthomozygote
dc.subjecthuman
dc.subjectmolecular biology
dc.subjectnegro
dc.subjectnucleic acid base substitution
dc.subjectpriority journal
dc.subjectsouth africa
dc.subjectAdult
dc.subjectBase Sequence
dc.subjectCystic Fibrosis
dc.subjectCystic Fibrosis Transmembrane Conductance Regulator
dc.subjectDNA Mutational Analysis
dc.subjectFemale
dc.subjectHaploidy
dc.subjectHeterozygote
dc.subjectHomozygote
dc.subjectHumans
dc.subjectMale
dc.subjectMolecular Sequence Data
dc.subjectSouth Africa
dc.titleFirst report of CFTR mutations in black cystic fibrosis patients of southern African origin
dc.typeArticle
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