Abstract
The aim of this chapter is to summarize some recent applications of basic chromosome research to medical genetics, particularly in the area of diagnosis of genetic disorders. The aspects covered include (1) the utility and limitations of restriction fragment length polymorphism (RFLP) analysis; (2) the application of synthetic oligonucleotide probes to the diagnosis of genetic disorders; and (3) karyotype analysis using DNA probes. Examples are drawn from hemoglobinopathies and some other heritable disorders, and from cancer biology.
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© 1987 Springer-Verlag Berlin Heidelberg
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Rae, P.M.M. (1987). Applications of Basic Chromosome Research in Biotechnology and Medicine. In: Hennig, W. (eds) Structure and Function of Eukaryotic Chromosomes. Results and Problems in Cell Differentiation, vol 14. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-47783-9_18
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DOI: https://doi.org/10.1007/978-3-540-47783-9_18
Publisher Name: Springer, Berlin, Heidelberg
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