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  3. Σχολή Επιστημών Υγείας
  4. Τμήμα Ιατρικής
  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/22592
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dc.contributor.authorPavlou, E.en
dc.contributor.authorPhylactides, M.en
dc.contributor.authorKyrri, A.en
dc.contributor.authorKalogerou, E.en
dc.contributor.authorMakariou, C.en
dc.contributor.authorGeorgiou, I.en
dc.contributor.authorKleanthous, M.en
dc.date.accessioned2015-11-24T19:25:14Z-
dc.date.available2015-11-24T19:25:14Z-
dc.identifier.issn0363-0269-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/22592-
dc.rightsDefault Licence-
dc.subjectChi-Square Distributionen
dc.subjectCodon/geneticsen
dc.subjectCyprus/epidemiologyen
dc.subjectDNA Mutational Analysisen
dc.subjectFemaleen
dc.subjectGenetic Testingen
dc.subjectGenotypeen
dc.subjectGlobins/*geneticsen
dc.subjectHemoglobin A2/*analysisen
dc.subjectHeterozygoteen
dc.subjectHeterozygote Detectionen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectPoint Mutation/*geneticsen
dc.subjectSequence Analysis, DNAen
dc.subjectalpha-Thalassemia/epidemiology/*geneticsen
dc.subjectbeta-Thalassemia/epidemiology/*geneticsen
dc.titleDelta-thalassemia in Cyprusen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primary10.1080/03630260600868006-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/16987800-
heal.identifier.secondaryhttp://informahealthcare.com/doi/abs/10.1080/03630260600868006-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2006-
heal.abstractTo help clarify the hematological picture of patients who may be positive for beta- and delta-globin gene mutations, the following study was carried out. Our aim was to identify the delta-globin gene mutations found in the Greek Cypriot population, their frequencies and the Hb A2 values associated with them. Seventy-four samples were selected from a random sample of 5,030 individuals, and the database of the Molecular Genetics Thalassaemia Department containing diagnostic analyses data was also mined for relevant information. Four novel for Cyprus delta-globin gene mutations: -30 (T-->C), Hb A2-Wrens [delta98(FG5)Val-->Met, GTG-->ATG], IVS-I-2 (T-->C) and Hb A2-Yokoshima [delta25(B7)Gly-->Asp (GGT-->GAT)] were identified. Hb A2-Yialousa [delta27(B9)Ala-->Ser, GCC-->TCC], Hb A2-Yokoshima, Hb A2-Troodos [delta116(G18)Arg-->Cys, CGC-->TGC], Hb A2-Pelendri [delta141(H19)Leu-->Pro, CTG-->CCG], codon 4 [delta4(A1)Thr-->Ile], codon 59 (-A), Hb A2-Wrens, IVS-II-897 (A-->G), IVS-I-2, -55 (T-->C) and -30 bring the total to 11 delta-globin alleles found in the Greek Cypriot population. Hb A2-Yialousa is the most common mutation followed by codon 4, with frequencies of 60.7 and 17.8%, respectively.Hb A2 levels above 1.9% have been found to indicate a significantly reduced possibility for the presence of a delta-globin gene mutation in this population. For Hb A2 levels of 1.7 and 1.8% the possibility of a delta-globin gene mutation rises to 90.9% and reaches 100% for lower Hb A2 levels. The frequency of all the mutant delta-globin chromosomes in the sample is 0.0067 and the carrier frequency is 1.26%.en
heal.journalNameHemoglobinen
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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