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Article: Analysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)
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TitleAnalysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)
 
AuthorsOnay, T3
Topaloglu, O3
Zielenski, J4
Gokgoz, N3
Kayserili, H1
Camcioglu, Y2
Cokugras, H2
Akcakaya, N2
Apak, M1
Tsui, LC4
Kirdar, B3
 
Issue Date1998
 
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
 
CitationHuman Genetics, 1998, v. 102 n. 2, p. 224-230 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s004390050683
 
AbstractIn order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. ΔF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA→G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population.
 
ISSN0340-6717
2013 Impact Factor: 4.522
 
DOIhttp://dx.doi.org/10.1007/s004390050683
 
ISI Accession Number IDWOS:000072457500019
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorOnay, T
 
dc.contributor.authorTopaloglu, O
 
dc.contributor.authorZielenski, J
 
dc.contributor.authorGokgoz, N
 
dc.contributor.authorKayserili, H
 
dc.contributor.authorCamcioglu, Y
 
dc.contributor.authorCokugras, H
 
dc.contributor.authorAkcakaya, N
 
dc.contributor.authorApak, M
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorKirdar, B
 
dc.date.accessioned2007-09-12T03:51:38Z
 
dc.date.available2007-09-12T03:51:38Z
 
dc.date.issued1998
 
dc.description.abstractIn order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. ΔF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA→G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population.
 
dc.description.natureabstract
 
dc.identifier.citationHuman Genetics, 1998, v. 102 n. 2, p. 224-230 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s004390050683
 
dc.identifier.doihttp://dx.doi.org/10.1007/s004390050683
 
dc.identifier.epage230
 
dc.identifier.isiWOS:000072457500019
 
dc.identifier.issn0340-6717
2013 Impact Factor: 4.522
 
dc.identifier.issue2
 
dc.identifier.pmid9521595
 
dc.identifier.scopuseid_2-s2.0-0031949654
 
dc.identifier.spage224
 
dc.identifier.urihttp://hdl.handle.net/10722/44336
 
dc.identifier.volume102
 
dc.languageeng
 
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
 
dc.publisher.placeGermany
 
dc.relation.ispartofHuman Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.rightsThe original publication is available at www.springerlink.com
 
dc.subject.meshAmino acid substitution - genetics
 
dc.subject.meshCystic fibrosis - genetics
 
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
 
dc.subject.meshFrameshift mutation
 
dc.subject.meshMutation
 
dc.titleAnalysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)
 
dc.typeArticle
 
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Author Affiliations
  1. Istanbul Üniversitesi
  2. Istanbul University, Cerrahpasa Faculty of Medicine
  3. Bogaziçi Üniversitesi
  4. Hospital for Sick Children University of Toronto