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Article: Complete screening of the CFTR gene in Argentine cystic fibrosis patients
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TitleComplete screening of the CFTR gene in Argentine cystic fibrosis patients
 
AuthorsVisich, A1
Zielenski, J3
Castaños, C1
Diez, G2
Grenoville, M1
Segal, E2
Barreiro, C1
Tsui, LC3
Chertkoff, LP1
 
KeywordsArgentine population
CFTR mutations
Cystic fibrosis
 
Issue Date2002
 
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
 
CitationClinical Genetics, 2002, v. 61 n. 3, p. 207-213 [How to Cite?]
DOI: http://dx.doi.org/10.1034/j.1399-0004.2002.610307.x
 
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.
 
ISSN0009-9163
2013 Impact Factor: 3.652
 
DOIhttp://dx.doi.org/10.1034/j.1399-0004.2002.610307.x
 
ISI Accession Number IDWOS:000175888900009
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorVisich, A
 
dc.contributor.authorZielenski, J
 
dc.contributor.authorCastaños, C
 
dc.contributor.authorDiez, G
 
dc.contributor.authorGrenoville, M
 
dc.contributor.authorSegal, E
 
dc.contributor.authorBarreiro, C
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorChertkoff, LP
 
dc.date.accessioned2007-09-12T03:52:15Z
 
dc.date.available2007-09-12T03:52:15Z
 
dc.date.issued2002
 
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.
 
dc.description.natureabstract
 
dc.identifier.citationClinical Genetics, 2002, v. 61 n. 3, p. 207-213 [How to Cite?]
DOI: http://dx.doi.org/10.1034/j.1399-0004.2002.610307.x
 
dc.identifier.doihttp://dx.doi.org/10.1034/j.1399-0004.2002.610307.x
 
dc.identifier.epage213
 
dc.identifier.isiWOS:000175888900009
 
dc.identifier.issn0009-9163
2013 Impact Factor: 3.652
 
dc.identifier.issue3
 
dc.identifier.openurl
 
dc.identifier.pmid12000363
 
dc.identifier.scopuseid_2-s2.0-0036524147
 
dc.identifier.spage207
 
dc.identifier.urihttp://hdl.handle.net/10722/44370
 
dc.identifier.volume61
 
dc.languageeng
 
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
 
dc.publisher.placeDenmark
 
dc.relation.ispartofClinical Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.rightsFor full bibliographic citation, please refer to the version available at www.blackwell-synergy.com
 
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
 
dc.subject.meshCystic fibrosis - diagnosis - genetics
 
dc.subject.meshGenetic heterogeneity
 
dc.subject.meshGenetic screening
 
dc.subject.meshPolymorphism, genetic
 
dc.subjectArgentine population
 
dc.subjectCFTR mutations
 
dc.subjectCystic fibrosis
 
dc.titleComplete screening of the CFTR gene in Argentine cystic fibrosis patients
 
dc.typeArticle
 
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<description.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 &#916;F508, 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.</description.abstract>
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Author Affiliations
  1. null
  2. Hospital de Ninos Sor Maria Ludovica
  3. Hospital for Sick Children University of Toronto