Cystic fibrosis patients from the black sea region: The 1677delTA mutation

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dc.contributor.authorAngelicheva D.
dc.contributor.authorBoteva K.
dc.contributor.authorJordanova A.
dc.contributor.authorSavov A.
dc.contributor.authorKufardjieva A.
dc.contributor.authorTolun A.
dc.contributor.authorTelatar M.
dc.contributor.authorAkarsubaşi A.
dc.contributor.authorKöprübaşi F.
dc.contributor.authorAydogdu S.
dc.contributor.authorDemirkol M.
dc.contributor.authorKurdoglu G.
dc.contributor.authorConstantinou-Deltas C.D.
dc.contributor.authorGeorgiou C.
dc.contributor.authorDean M.
dc.contributor.authorIvaschenko T.
dc.contributor.authorBaranov V.
dc.contributor.authorKalaydjieva L.
dc.date.accessioned2019-10-27T00:33:53Z
dc.date.available2019-10-27T00:33:53Z
dc.date.issued1994
dc.departmentEge Üniversitesien_US
dc.description.abstractA 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. The frequency of the mutation was compared among cystic fibrosis patients from several populations, namely Bulgarians, Turks, Greek-Cypriots, Georgians, and Russians. The deletion is most common among Georgian CF patients and gradually declines in frequency in neighbouring populations. It is invariably related to a common polymorphic haplotype which is rare among normal chromosomes in Bulgaria but was found to be common in Turkey. The geographic gradient in the frequency of the mutation, along with findings on polymorphic haplotype distribution, suggest that the mutation is relatively young in evolutionary terms and spread as the result of west and south-bound migrations originating from Georgia. The 1677delTA mutation is related to a severe clinical phenotype with a high early mortality rate among homozygotes and possibly to an increased risk of meconium ileus. © 1994 Wiley-Liss, Inc. Copyright © 1994 Wiley-Liss, Inc., A Wiley Companyen_US
dc.identifier.doi10.1002/humu.1380030405en_US
dc.identifier.endpage357en_US
dc.identifier.issn1059-7794
dc.identifier.issue4en_US
dc.identifier.pmid8081388en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage353en_US
dc.identifier.urihttps://doi.org/10.1002/humu.1380030405
dc.identifier.urihttps://hdl.handle.net/11454/24148
dc.identifier.volume3en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofHuman Mutationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCystic fibrosisen_US
dc.subjectGenotype/phenotype correlationen_US
dc.subjectMutationen_US
dc.subjectPopulation genetics of CFen_US
dc.titleCystic fibrosis patients from the black sea region: The 1677delTA mutationen_US
dc.typeArticleen_US

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