Συχνότητα και τύπος των μεταλλάξεων της β-μεσογειακής αναιμίας στην Ήπειρο (Doctoral thesis)

Κρανάς, Β. Π.


IN THIS RESEARCH A MOLECULAR STUDY OF Β-THALASSAEMIA IN EPIRUS AREA IS DESCRIBED. ALL SAMPLES WERE FROM PEOPLE WHO HAD THEIR ORIGIN IN EPIRUS. DNA WAS ISOLATED FROM WHITE BLOOD CELLS USING 1 ML PERIPHERAL BLOOD. FOR THE LOCALIZATIONOF Β-THALASSAEMIA MUTATIONS WITHIN THE B-GLOBIN GENE, SEVERAL AREAS OF THE GENE WERE INDEPENDENTLY AMPLIFIED BY POLYMERASE CHAIN REACTION, AND SUBSEQUENTLYANALYSED BY DENATURING GRADIENT GEL ELECTROPHORESIS. A TOTAL OF 633 MUTANT ALLELES WERE INVESTIGATED. THE MOST COMMON MUTATIONS IS IVS-I-110 (G-A), CODON 39 (C-T), IVS-I-1 (G-A), IVS-II-1 (G-A), CODON 6 (-A), IVS-I-6 (T-C) AND IVS-II-745 (C-G) ACCOUNTED FOR 97,8% OF THE ALLELES. 10 DIFFERENT MUTATIONS WEREFOUND IN A TOTAL OF 633 CHROMOSOMES. IT IS REMARKABLE THAT IN THE AREA OF THESPROTIA ONLY 2 MUTATIONS HAVE BEEN IDENTIFIED. THIS STUDY PROVIDES A COMPREHENSIVE BASIS FOR PRENATAL DIAGNOSIS OF Β-THALASSAEMIA IN EPIRUS AREA.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων Σχολή Ιατρικής Τμήμα Ιατρικής Τομέας Χειρουργικός Κλινική Μαιευτική Γυναικολογική Πανεπιστημιακού Γενικού Νοσοκομείου Ιωαννίνων
Subject classification: Μεσογειακή αναιμία
Keywords: Αλυσιδωτή αντίδραση πολυμεράσης,Β-μεσογειακή αναιμία,Ηλεκτροφόρηση σε κλίνη πυκνότητας,Μεταλλάξεις
URI: http://olympias.lib.uoi.gr/jspui/handle/123456789/481
Link: http://thesis.ekt.gr/thesisBookReader/id/11322#page/1/mode/2up
Appears in Collections:Διδακτορικές Διατριβές

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