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Title Trinucleotide diseases and instability / Ben A. Oostra, ed.

Published Berlin ; New York : Springer, [1998]


Location Call No. Status
 UniM BioMed ST  616.80442 TRIN    AVAILABLE
Physical description ix, 169 pages : illustrations ; 25 cm.
Series Results and problems in cell differentiation, 0080-1844 ; 21.
Results and problems in cell differentiation. 0080-1844 ; 21.
Bibliography Includes bibliographical references and index.
Contents The Fragile X Syndrome and Other Fragile Site Disorders / R. Frank Kooy, Ben A. Oostra and Patrick J. Willems -- Molecular Genetics of Huntington's Disease / Marcy E. MacDonald -- Myotonic Dystrophy / J. D. Waring and R. G. Korneluk -- Instabilities of Triplet Repeats: Factors and Mechanisms / Robert D. Wells, Albino Bacolla and Richard P. Bowater.
Summary The discovery in 1991 that human diseases can be caused by large-scale expansions of highly unstable trinucleotide repeats has elucidated a new mutation mechanism: heritable unstable DNA. There are ten possible trinucleotide repeats at the DNA level, but only three have been identified to be involved in human diseases. On the basis of three disease genes, this book provides an overview of the different types of repeat instability in genes and describes how this knowledge can be used diagnostically. The diseases share the unusual characteristic of inheritance with increased severity in successive generations, a phenomenon called anticipation. The anticipation can now be explained by the correlation of increasing repeat length with increased disease severity.
Other author Oostra, Ben A., 1946-
Subject Nervous system -- Diseases -- Genetic aspects.
Human chromosome abnormalities.
ISBN 3540639934 (acid-free paper)