Article: Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

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TitleCystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients
AuthorsOnay, T1
Zielenski, J1
Topaloglu, O1
Gokgoz, N1
Kayserili, H1
Apa, MY1
Camcioglu, Y1
Cokugras, H1
Akcakaya, N1
Tsui, LC1
Kirdar, B1
KeywordsCFTR
Cystic fibrosis
Mutation screening haplotypes
Turkish population
Issue Date2001
PublisherWayne State University Press.
CitationHuman Biology, 2001, v. 73 n. 2, p. 191-203 [How to Cite?]
AbstractIdentification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG) mT n-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.
ISSN0018-7143
2011 Impact Factor: 1.312
2011 SCImago Journal Rankings: 0.064
ISI Accession Number IDWOS:000170822000003
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorOnay, T
dc.contributor.authorZielenski, J
dc.contributor.authorTopaloglu, O
dc.contributor.authorGokgoz, N
dc.contributor.authorKayserili, H
dc.contributor.authorApa, MY
dc.contributor.authorCamcioglu, Y
dc.contributor.authorCokugras, H
dc.contributor.authorAkcakaya, N
dc.contributor.authorTsui, LC
dc.contributor.authorKirdar, B
dc.date.accessioned2007-03-23T04:48:53Z
dc.date.available2007-03-23T04:48:53Z
dc.date.issued2001
dc.description.abstractIdentification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG) mT n-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.
dc.description.naturepublished_or_final_version
dc.format.extent1597853 bytes
dc.format.extent25088 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypeapplication/msword
dc.identifier.citationHuman Biology, 2001, v. 73 n. 2, p. 191-203 [How to Cite?]
dc.identifier.epage203
dc.identifier.isiWOS:000170822000003
dc.identifier.issn0018-7143
2011 Impact Factor: 1.312
2011 SCImago Journal Rankings: 0.064
dc.identifier.issue2
dc.identifier.openurl
dc.identifier.pmid11446424
dc.identifier.scopuseid_2-s2.0-0034940302
dc.identifier.spage191
dc.identifier.urihttp://hdl.handle.net/10722/43554
dc.identifier.volume73
dc.languageeng
dc.publisherWayne State University Press.
dc.relation.ispartofHuman Biology
dc.relation.referencesReferences in Scopus
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
dc.subject.meshCystic fibrosis - ethnology - genetics
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
dc.subject.meshHaplotypes - genetics
dc.subject.meshMutation
dc.subject.meshMicrosatellite repeats
dc.subjectCFTR
dc.subjectCystic fibrosis
dc.subjectMutation screening haplotypes
dc.subjectTurkish population
dc.titleCystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients
dc.typeArticle
Author Affiliations
  1. Bogaziçi Üniversitesi