Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis

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dc.contributor.authorEL-Maarri, O
dc.contributor.authorKavakli, K
dc.contributor.authorCaglayan, SH
dc.date.accessioned2019-10-27T11:50:45Z
dc.date.available2019-10-27T11:50:45Z
dc.date.issued1999
dc.departmentEge Üniversitesien_US
dc.description.abstractIn about half of the severe haemophilia A cases, the disease is caused by an inversion that split the F.VIII gene into two parts separated by approximate to 300-400 kb. Herein, we show that in the Turkish population this inversion mutation accounts for 29% of 141 haemophilia A cases and 42% of severe cases. Most of the inversions are of the distal type (72%) whereas nine were of the proximal type (28%). Haplotype analysis using 4 markers in the F.VIII gene did not reveal a single haplotype associated with the inversion. However, the pre- valence of one haplotype: HindIII (-) - Int13 (CA)(20) - Int22 (CA + CT)(26) - XbaI (-) is higher in the inversion patients. Since founder effect is excluded for the inversion patients, our results suggest that some as yet unknown factor(s) may make these alleles more prone for the inversion. However, a bias due to the low number of studied cases cannot be excluded.en_US
dc.identifier.doi10.1046/j.1365-2516.1999.00307.xen_US
dc.identifier.endpage173en_US
dc.identifier.issn1351-8216
dc.identifier.issue3en_US
dc.identifier.pmid10444283en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage169en_US
dc.identifier.urihttps://doi.org/10.1046/j.1365-2516.1999.00307.x
dc.identifier.urihttps://hdl.handle.net/11454/34369
dc.identifier.volume5en_US
dc.identifier.wosWOS:000085545600004en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBlackwell Science Ltden_US
dc.relation.ispartofHaemophiliaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectinversionen_US
dc.subjectfactor VIIIen_US
dc.subjectpolymorphismsen_US
dc.subjecthaplotypesen_US
dc.titleIntron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysisen_US
dc.typeArticleen_US

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