{"id":{"repo_id":"greece","oai_identifier":"oai:10442/1620"},"canonical_url":"https://search.dev.ndltd.org/etd/greece/oai:10442/1620","repository":{"repo_id":"greece","name":"Greek National Archive of PhD Theses","base_url":"https://phdtheses.ekt.gr/eadd_oai/request"},"display":{"title":"ΜΕΛΕΤΗ ΤΩΝ ΑΠΛΟΤΥΠΩΝ ΚΑΙ ΜΕΤΑΛΛΑΓΩΝ ΤΗΣ Β-ΘΑΛΑΣΣΑΙΜΙΑΣ ΣΤΗΝ ΕΛΛΑΔΑ","abstract":"THE PRESENT THESIS AIMS TO STUDY THE DISTRIBUTION OF THE B-GENE CLUSTER HAPLOTYPES IN THE GREEK POPULATION. TO THIS EFFECT WE EXAMINED 316 NORMAL AND 219 THALASSEMIC CHROMOSOMES. IN ADDITION, WE IDENTIFIED THE MOLECULAR DEFECT WHICH CAUSES THE DECREASED B- CHAIN SYNTHESIS ON ALMOST ALL OF THE LATTER. THE IDENTIFICATION OF POLYMORPHIC SITES (HAPLOTYPES) WAS CARRIED OUT BY RECOMBINANT DNA TECHNIQUES. THE IDENTIFICATION OF THE THALASSEMIC MUTATIONS WAS DONE IN AMPLIFIED DNA BY HYBRIDIZATION WITH A SET OF RADIOACTIVE ALIGONUCLEOTIDES. A NEW MUTATION WAS DETECTED BY SEQUENCING ANALYSIS.","abstract_html":"THE PRESENT THESIS AIMS TO STUDY THE DISTRIBUTION OF THE B-GENE CLUSTER HAPLOTYPES IN THE GREEK POPULATION. TO THIS EFFECT WE EXAMINED 316 NORMAL AND 219 THALASSEMIC CHROMOSOMES. IN ADDITION, WE IDENTIFIED THE MOLECULAR DEFECT WHICH CAUSES THE DECREASED B- CHAIN SYNTHESIS ON ALMOST ALL OF THE LATTER. THE IDENTIFICATION OF POLYMORPHIC SITES (HAPLOTYPES) WAS CARRIED OUT BY RECOMBINANT DNA TECHNIQUES. THE IDENTIFICATION OF THE THALASSEMIC MUTATIONS WAS DONE IN AMPLIFIED DNA BY HYBRIDIZATION WITH A SET OF RADIOACTIVE ALIGONUCLEOTIDES. A NEW MUTATION WAS DETECTED BY SEQUENCING ANALYSIS.","abstract_has_math":false,"creators":["Kollia, Panagoula","Κόλλια, Παναγούλα"],"institution":"National and Kapodistrian University of Athens","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":[],"committee_chairs":[],"committee_members":[],"year":1990,"date_issued":"1990","date_published":"1990","updated_at":"2026-07-24T02:25:02Z","subjects":["ΑΝΑΛΥΣΗ ΑΛΛΗΛΟΥΧΙΑΣ DNA","Απλότυποι","Β-θαλασσαιμία","ΕΝΙΣΧΥΣΗ ΤΜΗΜΑΤΟΣ DNA","Μεταλλαγές","Περιοριστικά ένζυμα","AMPLIFYING","B-thalassemia","DNA","Haplotypes","Mutations","Restriction enzymes","RFAPS","Sequencing","Φυσικές Επιστήμες","Βιολογία","Natural Sciences","Biological Sciences"],"languages":["gre"],"rights":[],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["10.12681/eadd/1620"],"render_values":[{"text":"10.12681/eadd/1620","href":"https://doi.org/10.12681/eadd/1620","code":true}]}]},"links":{"outbound_url":"http://hdl.handle.net/10442/hedi/1620","outbound_label":"Handle","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:creator","label":"Author","values":["Kollia, Panagoula","Κόλλια, Παναγούλα"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["1990"]},{"key":"dc:publisher","label":"Institution","values":["National and Kapodistrian University of Athens","Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)"]},{"key":"dc:type","label":"Dc Type","values":["PhD Thesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["ΑΝΑΛΥΣΗ ΑΛΛΗΛΟΥΧΙΑΣ DNA","Απλότυποι","Β-θαλασσαιμία","ΕΝΙΣΧΥΣΗ ΤΜΗΜΑΤΟΣ DNA","Μεταλλαγές","Περιοριστικά ένζυμα","AMPLIFYING","B-thalassemia","DNA","Haplotypes","Mutations","Restriction enzymes","RFAPS","Sequencing","Φυσικές Επιστήμες","Βιολογία","Natural Sciences","Biological Sciences"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["gre"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["10.12681/eadd/1620","http://hdl.handle.net/10442/hedi/1620"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["THE PRESENT THESIS AIMS TO STUDY THE DISTRIBUTION OF THE B-GENE CLUSTER HAPLOTYPES IN THE GREEK POPULATION. TO THIS EFFECT WE EXAMINED 316 NORMAL AND 219 THALASSEMIC CHROMOSOMES. IN ADDITION, WE IDENTIFIED THE MOLECULAR DEFECT WHICH CAUSES THE DECREASED B- CHAIN SYNTHESIS ON ALMOST ALL OF THE LATTER. THE IDENTIFICATION OF POLYMORPHIC SITES (HAPLOTYPES) WAS CARRIED OUT BY RECOMBINANT DNA TECHNIQUES. THE IDENTIFICATION OF THE THALASSEMIC MUTATIONS WAS DONE IN AMPLIFIED DNA BY HYBRIDIZATION WITH A SET OF RADIOACTIVE ALIGONUCLEOTIDES. A NEW MUTATION WAS DETECTED BY SEQUENCING ANALYSIS.","Η Β-ΘΑΛΑΣΣΑΙΜΙΑ ΕΙΝΑΙ ΑΣΘΕΝΕΙΑ ΠΟΥ ΑΠΑΝΤΑ ΣΕ ΥΨΗΛΗ ΣΥΧΝΟΤΗΤΑ ΣΤΗΝ ΕΛΛΑΔΑ. ΤΑ ΤΕΛΕΥΤΑΙΑ ΧΡΟΝΙΑ Η ΜΕΛΕΤΗ ΕΧΕΙ ΕΠΙΚΕΝΤΡΩΘΕΙ ΣΤΗΝ ΑΝΑΓΝΩΡΙΣΗ ΤΩΝ ΜΟΡΙΑΚΩΝ ΒΛΑΒΩΝ ΠΟΥ ΠΡΟΚΑΛΟΥΝ ΜΕΙΩΣΗ ΤΗΣ ΣΥΝΘΕΣΗΣ ΤΩΝ ΑΛΥΣΙΔΩΝ ΤΗΣ ΑΙΜΟΣΦΑΙΡΙΝΗΣ. Η ΕΡΓΑΣΙΑ ΑΥΤΗΑΣΧΟΛΕΙΤΑΙ ΜΕ ΤΗΝ ΜΕΛΕΤΗ ΤΩΝ ΠΑΡΑΠΑΝΩ ΣΤΟΝ ΕΛΛΗΝΙΚΟ ΠΛΗΘΥΣΜΟ. ΣΤΗΝ ΠΑΡΟΥΣΑ ΕΡΓΑΣΙΑ ΜΕΛΕΤΗΘΗΚΑΝ ΜΕ ΤΕΧΝΙΚΕΣ ΑΝΑΣΥΝΔΥΑΣΜΕΝΟΥ DNA ΟΙ ΑΛΛΟΤΥΠΟΙ ΤΗΣ ΠΕΡΙΟΧΗΣ ΤΟΥ Β ΓΟΝΙΔΙΟΥ ΣΕ 316 ΦΥΣΙΟΛΟΓΙΚΑ ΧΡΩΜΟΣΩΜΑΤΑ ΚΑΙ ΟΙ 219 ΧΡΩΜΟΣΩΜΑΤΑ ΠΟΥ ΕΦΕΡΑΝ ΕΝΑΘΑΛΑΣΣΑΙΜΙΚΟ Β ΓΟΝΙΔΙΟ. Η ΜΕΛΕΤΗ ΑΥΤΗ ΑΠΟΣΚΟΠΕΙ ΣΤΟΝ ΚΑΘΟΡΙΣΜΟ ΤΗΣ ΣΥΧΝΟΤΗΤΑΣ ΤΩΝ ΑΠΛΟΤΥΠΩΝ ΑΥΤΩΝ ΣΤΟΝ ΕΛΛΗΝΙΚΟ ΠΛΗΘΥΣΜΟ Η ΣΥΓΚΡΙΣΗ ΤΗΣ ΚΑΤΑΝΟΜΗΣ ΜΕ ΕΚΕΙΝΗ ΤΩΝ ΓΕΙΤΟΝΙΚΩΝ ΠΛΗΘΥΣΜΩΝ, Η ΣΥΓΚΡΙΣΗ ΜΕΤΑΞΥ ΦΥΣΙΟΛΟΓΙΚΩΝ ΚΑΙ ΘΑΛΑΣΣΑΙΜΙΚΩΝ ΧΡΩΜΟΣΩΜΑΤΩΝ, Ο ΣΥΣΧΕΤΙΣΜΟΣ ΤΩΝ ΑΛΛΟΤΥΠΩΝ ΜΕ ΤΙΣ ΥΠΟΚΕΙΜΕΝΕΣ ΜΟΡΙΑΚΕΣ ΒΛΑΒΕΣ ΣΤΑ ΘΑΛΑΣΣΑΙΜΙΚΑ ΧΡΩΜΟΣΩΜΑΤΑ ΚΑΙ Η ΔΙΕΡΕΥΝΗΣΗ ΤΗΣ ΔΥΝΑΤΟΤΗΤΑΣ ΑΞΙΟΠΟΙΗΣΗΣ ΤΩΝ ΑΠΟΤΕΛΕΣΜΑΤΩΝ ΣΤΗΝ ΠΡΟΓΕΝΕΤΙΚΗ ΔΙΑΓΝΩΣΗ. ΣΤΟ ΠΛΑΙΣΙΟ ΑΥΤΟ ΑΝΑΓΝΩΡΙΣΘΗΚΑΝ ΕΠΙΣΗΣ ΟΙ ΜΟΡΙΑΚΕΣ ΒΛΑΒΕΣ ΠΟΥ ΠΡΟΚΑΛΟΥΝ Β- ΘΑΛΑΣΣΑΙΜΙΑ ΣΤΗΝ ΕΛΛΑΔΑ ΚΑΙ ΔΙΕΥΚΡΙΝΙΣΘΗΚΕ ΜΙΑ ΑΓΝΩΣΤΗ ΜΕΧΡΙ ΣΗΜΕΡΑ ΜΕΤΑΛΛΑΓΗ."]},{"key":"dc:title","label":"Title","values":["ΜΕΛΕΤΗ ΤΩΝ ΑΠΛΟΤΥΠΩΝ ΚΑΙ ΜΕΤΑΛΛΑΓΩΝ ΤΗΣ Β-ΘΑΛΑΣΣΑΙΜΙΑΣ ΣΤΗΝ ΕΛΛΑΔΑ","GENE CLUSTER HAPLOTYPES AND THALASSEMIC MUTATIONS IN GREECE"]}]}],"canonical_facts":{"dc:creator":["Kollia, Panagoula","Κόλλια, Παναγούλα"],"dc:date":["1990"],"dc:description":["THE PRESENT THESIS AIMS TO STUDY THE DISTRIBUTION OF THE B-GENE CLUSTER HAPLOTYPES IN THE GREEK POPULATION. TO THIS EFFECT WE EXAMINED 316 NORMAL AND 219 THALASSEMIC CHROMOSOMES. IN ADDITION, WE IDENTIFIED THE MOLECULAR DEFECT WHICH CAUSES THE DECREASED B- CHAIN SYNTHESIS ON ALMOST ALL OF THE LATTER. THE IDENTIFICATION OF POLYMORPHIC SITES (HAPLOTYPES) WAS CARRIED OUT BY RECOMBINANT DNA TECHNIQUES. THE IDENTIFICATION OF THE THALASSEMIC MUTATIONS WAS DONE IN AMPLIFIED DNA BY HYBRIDIZATION WITH A SET OF RADIOACTIVE ALIGONUCLEOTIDES. A NEW MUTATION WAS DETECTED BY SEQUENCING ANALYSIS.","Η Β-ΘΑΛΑΣΣΑΙΜΙΑ ΕΙΝΑΙ ΑΣΘΕΝΕΙΑ ΠΟΥ ΑΠΑΝΤΑ ΣΕ ΥΨΗΛΗ ΣΥΧΝΟΤΗΤΑ ΣΤΗΝ ΕΛΛΑΔΑ. ΤΑ ΤΕΛΕΥΤΑΙΑ ΧΡΟΝΙΑ Η ΜΕΛΕΤΗ ΕΧΕΙ ΕΠΙΚΕΝΤΡΩΘΕΙ ΣΤΗΝ ΑΝΑΓΝΩΡΙΣΗ ΤΩΝ ΜΟΡΙΑΚΩΝ ΒΛΑΒΩΝ ΠΟΥ ΠΡΟΚΑΛΟΥΝ ΜΕΙΩΣΗ ΤΗΣ ΣΥΝΘΕΣΗΣ ΤΩΝ ΑΛΥΣΙΔΩΝ ΤΗΣ ΑΙΜΟΣΦΑΙΡΙΝΗΣ. Η ΕΡΓΑΣΙΑ ΑΥΤΗΑΣΧΟΛΕΙΤΑΙ ΜΕ ΤΗΝ ΜΕΛΕΤΗ ΤΩΝ ΠΑΡΑΠΑΝΩ ΣΤΟΝ ΕΛΛΗΝΙΚΟ ΠΛΗΘΥΣΜΟ. ΣΤΗΝ ΠΑΡΟΥΣΑ ΕΡΓΑΣΙΑ ΜΕΛΕΤΗΘΗΚΑΝ ΜΕ ΤΕΧΝΙΚΕΣ ΑΝΑΣΥΝΔΥΑΣΜΕΝΟΥ DNA ΟΙ ΑΛΛΟΤΥΠΟΙ ΤΗΣ ΠΕΡΙΟΧΗΣ ΤΟΥ Β ΓΟΝΙΔΙΟΥ ΣΕ 316 ΦΥΣΙΟΛΟΓΙΚΑ ΧΡΩΜΟΣΩΜΑΤΑ ΚΑΙ ΟΙ 219 ΧΡΩΜΟΣΩΜΑΤΑ ΠΟΥ ΕΦΕΡΑΝ ΕΝΑΘΑΛΑΣΣΑΙΜΙΚΟ Β ΓΟΝΙΔΙΟ. Η ΜΕΛΕΤΗ ΑΥΤΗ ΑΠΟΣΚΟΠΕΙ ΣΤΟΝ ΚΑΘΟΡΙΣΜΟ ΤΗΣ ΣΥΧΝΟΤΗΤΑΣ ΤΩΝ ΑΠΛΟΤΥΠΩΝ ΑΥΤΩΝ ΣΤΟΝ ΕΛΛΗΝΙΚΟ ΠΛΗΘΥΣΜΟ Η ΣΥΓΚΡΙΣΗ ΤΗΣ ΚΑΤΑΝΟΜΗΣ ΜΕ ΕΚΕΙΝΗ ΤΩΝ ΓΕΙΤΟΝΙΚΩΝ ΠΛΗΘΥΣΜΩΝ, Η ΣΥΓΚΡΙΣΗ ΜΕΤΑΞΥ ΦΥΣΙΟΛΟΓΙΚΩΝ ΚΑΙ ΘΑΛΑΣΣΑΙΜΙΚΩΝ ΧΡΩΜΟΣΩΜΑΤΩΝ, Ο ΣΥΣΧΕΤΙΣΜΟΣ ΤΩΝ ΑΛΛΟΤΥΠΩΝ ΜΕ ΤΙΣ ΥΠΟΚΕΙΜΕΝΕΣ ΜΟΡΙΑΚΕΣ ΒΛΑΒΕΣ ΣΤΑ ΘΑΛΑΣΣΑΙΜΙΚΑ ΧΡΩΜΟΣΩΜΑΤΑ ΚΑΙ Η ΔΙΕΡΕΥΝΗΣΗ ΤΗΣ ΔΥΝΑΤΟΤΗΤΑΣ ΑΞΙΟΠΟΙΗΣΗΣ ΤΩΝ ΑΠΟΤΕΛΕΣΜΑΤΩΝ ΣΤΗΝ ΠΡΟΓΕΝΕΤΙΚΗ ΔΙΑΓΝΩΣΗ. ΣΤΟ ΠΛΑΙΣΙΟ ΑΥΤΟ ΑΝΑΓΝΩΡΙΣΘΗΚΑΝ ΕΠΙΣΗΣ ΟΙ ΜΟΡΙΑΚΕΣ ΒΛΑΒΕΣ ΠΟΥ ΠΡΟΚΑΛΟΥΝ Β- ΘΑΛΑΣΣΑΙΜΙΑ ΣΤΗΝ ΕΛΛΑΔΑ ΚΑΙ ΔΙΕΥΚΡΙΝΙΣΘΗΚΕ ΜΙΑ ΑΓΝΩΣΤΗ ΜΕΧΡΙ ΣΗΜΕΡΑ ΜΕΤΑΛΛΑΓΗ."],"dc:identifier":["10.12681/eadd/1620","http://hdl.handle.net/10442/hedi/1620"],"dc:language":["gre"],"dc:publisher":["National and Kapodistrian University of Athens","Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)"],"dc:subject":["ΑΝΑΛΥΣΗ ΑΛΛΗΛΟΥΧΙΑΣ DNA","Απλότυποι","Β-θαλασσαιμία","ΕΝΙΣΧΥΣΗ ΤΜΗΜΑΤΟΣ DNA","Μεταλλαγές","Περιοριστικά ένζυμα","AMPLIFYING","B-thalassemia","DNA","Haplotypes","Mutations","Restriction enzymes","RFAPS","Sequencing","Φυσικές Επιστήμες","Βιολογία","Natural Sciences","Biological Sciences"],"dc:title":["ΜΕΛΕΤΗ ΤΩΝ ΑΠΛΟΤΥΠΩΝ ΚΑΙ ΜΕΤΑΛΛΑΓΩΝ ΤΗΣ Β-ΘΑΛΑΣΣΑΙΜΙΑΣ ΣΤΗΝ ΕΛΛΑΔΑ","GENE CLUSTER HAPLOTYPES AND THALASSEMIC MUTATIONS IN GREECE"],"dc:type":["PhD Thesis"]},"updated_at":"2026-07-24T02:25:02Z"}