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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
 
ISI Accession Number IDWOS:000170822000003
 
ReferencesReferences in Scopus
 
DC FieldValue
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
 
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
 
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Author Affiliations
  1. Bogaziçi Üniversitesi