ΜΕΛΕΤΗ ΤΩΝ ΑΠΛΟΤΥΠΩΝ ΚΑΙ ΜΕΤΑΛΛΑΓΩΝ ΤΗΣ Β-ΘΑΛΑΣΣΑΙΜΙΑΣ ΣΤΗΝ ΕΛΛΑΔΑ

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.

Grantor dc:publisher

National and Kapodistrian University of Athens

Year dc:date

1990

Authors dc:creator

• Kollia, Panagoula
• Κόλλια, Παναγούλα

• 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

Language dc:language

gre

Identifier

10.12681/eadd/1620

OAI identifier oai:identifier

oai:10442/1620