Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

Basit Öğe Kaydı
dc.contributor.authorKilinc, MO
dc.contributor.authorNinis, VN
dc.contributor.authorDagli, E
dc.contributor.authorDemirkol, M
dc.contributor.authorÖzkınay, F
dc.contributor.authorArikan, Z
dc.contributor.authorCogulu, O
dc.contributor.authorHuner, G
dc.contributor.authorKarakoc, F
dc.contributor.authorTolun, A
dc.date.accessioned2019-10-27T18:42:20Z
dc.date.available2019-10-27T18:42:20Z
dc.date.issued2002
dc.departmentEge Üniversitesien_US
dc.description.abstractWe analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406-3T > C and 3849 + 5G > A), and one deletion (CFTRdele17b,18). The data showed that the Turkish population has the highest genetic heterogeneity at the CFTR locus reported so far. The results of this thorough molecular analysis at the CFTR locus of a population not of European descent shows that CF is not uncommon in all such populations. The large number of mutations present, as well as the high heterogeneity in haplotypes associated with the mutations suggests that most of the mutations have persisted for a long time in the population. Consistently, the carrier frequency is assessed to be high, indicating that the disease in the population is ancient. (C) 2002 Wiley-Liss, Inc.en_US
dc.identifier.doi10.1002/ajmg.10721en_US
dc.identifier.endpage257en_US
dc.identifier.issn0148-7299
dc.identifier.issue3en_US
dc.identifier.pmid12439892en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage250en_US
dc.identifier.urihttps://doi.org/10.1002/ajmg.10721
dc.identifier.urihttps://hdl.handle.net/11454/37111
dc.identifier.volume113en_US
dc.identifier.wosWOS:000179171500005en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWiley-Lissen_US
dc.relation.ispartofAmerican Journal of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCFen_US
dc.subjectTurkishen_US
dc.subjectK68Een_US
dc.subjectQ493Pen_US
dc.subjectE608Gen_US
dc.subjectV1147Ien_US
dc.subject406-3T > Cen_US
dc.subject3849+5G > Aen_US
dc.subjectCFTRdele17b, 18en_US
dc.titleHighest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patientsen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu