Trinucleotide Diseases and Instability (Results and Problems in Cell Differentiation) [Hardcover]

Ben A. Oostra (Editor)

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Book Description

Publication Date: July 1, 1998 | ISBN-10: 3540639934 | ISBN-13: 978-3540639930 | Edition: 1

The discovery in 1991 that human diseases can be caused by large-scale expansion 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.

#outer_postBodyPS { display: none; } #psGradient { display: none; } #psPlaceHolder { display: none; } #psExpand { display: none; } The discovery in 1991 that human diseases can be caused by large-scale expansion 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.

Product Details

Hardcover: 169 pages
Publisher: Springer; 1 edition (July 1, 1998)
Language: English
ISBN-10: 3540639934
ISBN-13: 978-3540639930
Product Dimensions: 10 x 6.5 x 0.8 inches
Shipping Weight: 12.6 ounces

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