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STUDIES ON CHROMOSOME 21. CONTRIBUTION TO THE GENETIC MAP AND TO THE STUDY OF TRISOMY 21

By Δημήτριος Αβραμόπουλος

Abstract

THE PRESENT THESIS HAS TWO PARTS. THE FIRST PART DESCRIBES OUR CONTRIBUTION TO THE CREATION OF A GENETIC LINUAGE MAP OF CHROMOSOME 21. THIS WAS DONE: A) BY IDENTIFYING 7 NEW POLYMORPHISMS LINUED WITH GENES ON THE CHROMOSOME AND B) BY GENOTYPING AND MAPPING THE ABOVE AND ANOTHER TWO SHORT SEQUENCE REPEAT POLYMORPHISMS. THE SECOND PART OF THE THESIS DESCRIBES THE ANALYSIS AND DETERMINATIONOF THE ORIGIN OF TRISOMY 21. IN FULL TRISOMY 21 WE ADD INFORMATION TO THE EXISTING DATA AND SHOW THE EXISTENCE OF MITOTIC ERRORS LEADING TO TRISOMY. IN MOSAIC TRISOMY 21 WE PROVE THE EXISTENCE AND DETERMINE THE FREQUENCY OF MEIOTIC AND MITOTIC ERRORS.

Topics: CHROMOSOME 21, GENETIC LINUAGE, Genetics, LINUAGE MAP, Mosaic, Polymorphisms, Trisomy 21, Γενετική, ΓΕΝΕΤΙΚΟΣ ΧΑΡΤΗΣ, ΜΕΙΩΤΙΚΗ ΣΥΝΔΕΣΗ, Μωσαϊκό, Πολυμορφισμοί, Τρισωμία 21, ΧΡΩΜΟΣΩΜΑ 21
Publisher: University of Crete (UOC)
Year: 1995
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