Analysis of triplet repeat disorders
著者
書誌事項
Analysis of triplet repeat disorders
（The Human molecular genetics series / series advisors, D.N. Cooper, S.E. Humphries, T. Strachan）
BIOS Scientific, 1998
- : us
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注記
Includes bibliographical references and index
内容説明・目次
- 巻冊次
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: us ISBN 9780122204319
内容説明
The clinical picture of diseases, caused by trinucleotide repeats, such as fragile X syndrome, myotonic dystrophy, Huntington's disease and forms of spinocerebella ataxia, provide the starting point for this authoritative review volume.The book proceeds to integrate the current understanding of the molecular pathologies of these diseases, their genotype-phenotype relationships, the mutational processes involved and the laboratory and clinical issues relating to genetic testing for these disorders.Clinicians and researchers in genetics, neuroscience, pediatrics and psychiatry will all benefit from the comprehensive overviews contributed by recognized world experts.
- 巻冊次
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ISBN 9781859962664
内容説明
Analysis of Triplet Repeat Disorders is aimed at clinicians and scientists who work with these diseases or who have an interest in the field. Using the clinical picture of these diseases as a starting point, the book reviews and integrates the current understanding of their molecular pathologies, the genotype-phenotype relationships, the mutational processes of trinucleotide repeats, and the laboratory and clinical issues relating to genetic testing for these disorders.
目次
Foreword. Introduction. The FRAXA fragile site and fragile X syndrome. Molecular studies of the fragile sites FRAXE and FAXF. Myotonic dystrophy. Spinobulbar musculal atrophy. Polyglutamine tract vs protein context in SCA1 pathogenesis. Spinocerebellar ataxia type 2 (SCA2). Spinocerebellar ataxia type 3/Machado Joseph disease. Spinocerebellar ataxia type 6 (SCA6). Spinocerebellar ataxia type 7 (SCA7). Huntingtons disease. Dentatorubral-pallidoluysian atrophy (DRLPA). Friedrich's ataxia. Anticipation, triplet repeats and psychiatric disorders. Trinucleotide repeat mutation processes. Diagnostic testing for trinucleotide repeat diseases. Predictive testing for trinucleotide repeat diseases.
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