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Article: Analysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)

TitleAnalysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)
Authors
Issue Date1998
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1998, v. 102 n. 2, p. 224-230 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/44336
ISSN
2014 Impact Factor: 4.824
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOnay, Ten_HK
dc.contributor.authorTopaloglu, Oen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorGokgoz, Nen_HK
dc.contributor.authorKayserili, Hen_HK
dc.contributor.authorCamcioglu, Yen_HK
dc.contributor.authorCokugras, Hen_HK
dc.contributor.authorAkcakaya, Nen_HK
dc.contributor.authorApak, Men_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorKirdar, Ben_HK
dc.date.accessioned2007-09-12T03:51:38Z-
dc.date.available2007-09-12T03:51:38Z-
dc.date.issued1998en_HK
dc.identifier.citationHuman Genetics, 1998, v. 102 n. 2, p. 224-230en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44336-
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.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshAmino acid substitution - geneticsen_HK
dc.subject.meshCystic fibrosis - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.subject.meshFrameshift mutationen_HK
dc.subject.meshMutationen_HK
dc.titleAnalysis of the CFTR gene in Turkish cystic fibrosis patients: Identification of three novel mutations (3172delAC, P1013L and M1028I)en_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1007/s004390050683en_HK
dc.identifier.pmid9521595en_HK
dc.identifier.scopuseid_2-s2.0-0031949654en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031949654&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume102en_HK
dc.identifier.issue2en_HK
dc.identifier.spage224en_HK
dc.identifier.epage230en_HK
dc.identifier.isiWOS:000072457500019-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridOnay, T=24479257900en_HK
dc.identifier.scopusauthoridTopaloglu, O=6508018998en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridGokgoz, N=6603504668en_HK
dc.identifier.scopusauthoridKayserili, H=8563919100en_HK
dc.identifier.scopusauthoridCamcioglu, Y=6602950308en_HK
dc.identifier.scopusauthoridCokugras, H=6602698018en_HK
dc.identifier.scopusauthoridAkcakaya, N=6701576517en_HK
dc.identifier.scopusauthoridApak, M=6602557836en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridKirdar, B=7004321965en_HK

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