Trinucleotide diseases and instability
著者
書誌事項
Trinucleotide diseases and instability
（Results and problems in cell differentiation, 21）
Springer-Verlag, 1998
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
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 10 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 work 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,
目次
- The fragile X-syndrome and other fragile site disorders
- molecular genetics of Huntingdon's Disease
- myotonic dystropy
- instabilities of triplet repeats - factors and mechanisms.
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