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Article: Complete screening of the CFTR gene in Argentine cystic fibrosis patients

TitleComplete screening of the CFTR gene in Argentine cystic fibrosis patients
Authors
KeywordsArgentine population
CFTR mutations
Cystic fibrosis
Issue Date2002
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2002, v. 61 n. 3, p. 207-213 How to Cite?
Abstract
In order to establish the nature and the distribution of mutations causing cystic fibrosis (CF) in 220 unrelated Argentine families, the present authors conducted an extensive molecular analysis of the CF transmembrane regulator (CFTR) gene. First, a direct mutation analysis of 13 common mutations was done, enabling the detection of 319 out of 440 CF alleles (72.52%). Then an exhaustive screening of the entire coding region and the adjacent sequences of the CFTR gene was performed in all patients carrying at least one unidentified CF allele using the multiplex heteroduplex analysis assay followed by direct DNA sequencing. Thirty-nine different CF mutations, including five previously undescribed mutations (i.e. L6V, Y362X, 1353insT, 2594delGT and 2686insT) and two novel polymorphisms (i.e. 1170G/C and 3315A/C) were identified. As a result, the overall detection rate increased by up to 83.45%. Besides ΔF508, only five mutations showed frequencies higher than 1%. In addition, a total of 49% of the mutations were rare because they were found in only one CF family. This wide spectrum of CF mutations is in agreement with the heterogeneous ethnic origin of the Argentine population. The data obtained here may have important consequences for the development of adequate strategies for the molecular diagnosis of CF in Argentina.
Persistent Identifierhttp://hdl.handle.net/10722/44370
ISSN
2013 Impact Factor: 3.652
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorVisich, Aen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorCastaños, Cen_HK
dc.contributor.authorDiez, Gen_HK
dc.contributor.authorGrenoville, Men_HK
dc.contributor.authorSegal, Een_HK
dc.contributor.authorBarreiro, Cen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorChertkoff, LPen_HK
dc.date.accessioned2007-09-12T03:52:15Z-
dc.date.available2007-09-12T03:52:15Z-
dc.date.issued2002en_HK
dc.identifier.citationClinical Genetics, 2002, v. 61 n. 3, p. 207-213en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44370-
dc.description.abstractIn order to establish the nature and the distribution of mutations causing cystic fibrosis (CF) in 220 unrelated Argentine families, the present authors conducted an extensive molecular analysis of the CF transmembrane regulator (CFTR) gene. First, a direct mutation analysis of 13 common mutations was done, enabling the detection of 319 out of 440 CF alleles (72.52%). Then an exhaustive screening of the entire coding region and the adjacent sequences of the CFTR gene was performed in all patients carrying at least one unidentified CF allele using the multiplex heteroduplex analysis assay followed by direct DNA sequencing. Thirty-nine different CF mutations, including five previously undescribed mutations (i.e. L6V, Y362X, 1353insT, 2594delGT and 2686insT) and two novel polymorphisms (i.e. 1170G/C and 3315A/C) were identified. As a result, the overall detection rate increased by up to 83.45%. Besides ΔF508, only five mutations showed frequencies higher than 1%. In addition, a total of 49% of the mutations were rare because they were found in only one CF family. This wide spectrum of CF mutations is in agreement with the heterogeneous ethnic origin of the Argentine population. The data obtained here may have important consequences for the development of adequate strategies for the molecular diagnosis of CF in Argentina.en_HK
dc.languageengen_HK
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsFor full bibliographic citation, please refer to the version available at www.blackwell-synergy.comen_HK
dc.subjectArgentine populationen_HK
dc.subjectCFTR mutationsen_HK
dc.subjectCystic fibrosisen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.subject.meshCystic fibrosis - diagnosis - geneticsen_HK
dc.subject.meshGenetic heterogeneityen_HK
dc.subject.meshGenetic screeningen_HK
dc.subject.meshPolymorphism, geneticen_HK
dc.titleComplete screening of the CFTR gene in Argentine cystic fibrosis patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9163&volume=61&issue=3&spage=207&epage=213&date=2002&atitle=Complete+screening+of+the+CFTR+gene+in+Argentine+cystic+fibrosis+patientsen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1034/j.1399-0004.2002.610307.xen_HK
dc.identifier.pmid12000363en_HK
dc.identifier.scopuseid_2-s2.0-0036524147en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036524147&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume61en_HK
dc.identifier.issue3en_HK
dc.identifier.spage207en_HK
dc.identifier.epage213en_HK
dc.identifier.isiWOS:000175888900009-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridVisich, A=6508183453en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridCastaños, C=24174236300en_HK
dc.identifier.scopusauthoridDiez, G=6602182367en_HK
dc.identifier.scopusauthoridGrenoville, M=24174309100en_HK
dc.identifier.scopusauthoridSegal, E=7102216874en_HK
dc.identifier.scopusauthoridBarreiro, C=6701758234en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridChertkoff, LP=6602845423en_HK

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