Date of Award
Master of Science (MS)
To study chromosomal segregation errors causing Down syndrome one needs a chromosome 21 (HC21) specific centromeric marker, which presently does not exist. Alphoid DNA is the only repetitive sequence at all human centromeres. The current map of HC21 has a gap in the p-arm alphoid (D21Z1) junction region and the centromeric satellite I (satI) sequence. This satellite I cluster was shown not to be a specific centromeric marker since it is also on HC13. There are actually multiple satI families on both HC13 and HC21. This project also filled the gap in the HC21map and characterized the D21Z1 p- arm junction region. A complete HC21 centromere physical map now exists that identified a novel Y-satellite I cluster and established clear linkage relations between D21Z1, satellite I and Y-satellite I. The D21Z1 p-arm junction region's structure is not consistent with the unequal crossover model for the evolution of this region.
Patel, Riddhi V., "Organization of the Centromeric Satellite I Cluster and D21z1 Short Arm Junction Region of Human Chromosome 21" (2012). Master's Theses. 829.
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Copyright © 2012 Riddhi V. Patel