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Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11
Authors:John S Waye  Gillian M Greig  Huntington F Willard
Institution:(1) Department of Medical Genetics, University of Toronto, M5S1A8 Toronto, Ontario, Canada;(2) Department of Genetics, Research Institute, Hospital for Sick Children, M5G18X Toronto, Ontario, Canada
Abstract:Summary The pericentromeric region of human chromosomes is composed of diverse classes of repetitive DNAs, which provide a rich source of genetic variability. Here, we describe two novel centromeric polymorphisms associated with a subset of alpha satellite repetitive DNA, D11Z1, which is specific for human chromosome 11. Segregation and inheritance of the polymorphisms are demonstrated and their relative frequencies are determined. These polymorphisms may be useful genetic tools for distinguishing between individual chromosome 11 centromeres. In addition, these polymorphisms may be applied to the development of a centromerebased genetic linkage map of chromosome 11. Molecular models for the generation of these polymorphisms are discussed.
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