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dc.contributor.authorÇolakoğlu, Şeymaen_US
dc.contributor.authorBayhan, Turanen_US
dc.contributor.authorTavıl, Betülen_US
dc.contributor.authorKeskin Yılmaz, Ebruen_US
dc.contributor.authorÇakır, Volkanen_US
dc.contributor.authorGümrük, Fatmaen_US
dc.contributor.authorÇetin, Muallaen_US
dc.contributor.authorAytaç, Selinen_US
dc.contributor.authorBerber, Ergülen_US
dc.date.accessioned2019-05-29T09:31:43Z
dc.date.available2019-05-29T09:31:43Z
dc.date.issued2018
dc.identifier.citationColakoglu, S., Bayhan, T., Tavil, B., Keskin, E. Y., Cakir, V., Gumruk, F., . . . Berber, E. (2018). Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families. Blood Transfusion, 16(1), 105-113. doi:10.2450/2016.0098-16en_US
dc.identifier.issn1723-2007
dc.identifier.urihttps://hdl.handle.net/20.500.12294/1419
dc.descriptionÇakır, Volkan (Arel Author), Berber, Ergül (Arel Author)en_US
dc.description.abstractBackground. Factor XI (FXI) deficiency is an autosomal bleeding disease associated with genetic defects in the F11 gene which cause decreased FXI levels or impaired FXI function. An increasing number of mutations has been reported in the FXI mutation database, most of which affect the serine protease domain of the protein. FXI is a heterogeneous disorder associated with a variable bleeding tendency and a variety of causative F11 gene mutations. The molecular basis of FXI deficiency in 14 patients from ten unrelated families in Turkey was analysed to establish genotype-phenotype correlations and inheritance of the mutations in the patients' families. Material and methods. Fourteen index cases with a diagnosis of FXI deficiency and family members of these patients were enrolled into the study. The patients' F11 genes were amplified by polymerase chain reaction and subjected to direct DNA sequencing analysis. The findings were analysed statistically using bivariate correlations, Pearson's correlation coefficient and the non-parametric Mann-Whitney test.Results. Direct DNA sequencing analysis of the F11 genes revealed that all of the 14 patients had a F11 gene mutation. Eight different mutations were identified in the apple 1, apple 2 or serine protease domains, except one which was a splice site mutation. Six of the mutations were recurrent. Two of the mutations were novel missense mutations, p.Val522Gly and p.Cys581Arg, within the catalytic domain. The p.Trp519Stop mutation was observed in two families whereas all the other mutations were specific to a single family. Discussion. Identification of mutations confirmed the genetic heterogeneity of FXI deficiency. Most of the patients with mutations did not have any bleeding complications, whereas some had severe bleeding symptoms. Genetic screening for F11 gene mutations is important to decrease the mortality and morbidity rate associated with FXI deficiency, which can be life-threatening if bleeding occurs in tissues with high fibrinolytic activity.en_US
dc.language.isoengen_US
dc.publisherSimti Servizi SRLen_US
dc.relation.ispartofBlood Transfusionen_US
dc.identifier.doi10.2450/2016.0098-16en_US
dc.identifier.doi10.2450/2016.0098-16
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFXI Deficiencyen_US
dc.subjectF11 Geneen_US
dc.subjectRare Bleeding Disordersen_US
dc.subjectCoagulation Deficiencyen_US
dc.titleMolecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within familiesen_US
dc.typearticleen_US
dc.departmentİstanbul Arel Üniversitesi, Fen-Edebiyat Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.departmentİstanbul Arel Üniversitesi, Mühendislik ve Mimarlık Fakültesi, Endüstri Mühendisliği Bölümüen_US
dc.identifier.volume16en_US
dc.identifier.issue1en_US
dc.identifier.startpage105en_US
dc.identifier.endpage113en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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