Analysis of triplet repeat disorders
by Hayden, Michael R. Rubinsztein, D. C., (David C.)
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 disord…
Read More ↓Title Statements
- Full title :Analysis of triplet repeat disorders / D.C. Rubinsztein and M.R. Hayden, [editors].
Summary
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.
Read More ↓Edition Statements
- Publication Date:1998.
Publication Statements
- Publisher(s):Bios Scientific Publishers
- Place of Publication:Oxford
- Language:eng
- Publication Date:1998.
The Physical Object
- Description:1 online resource (xvii, 327 pages) : : illustrations
Edition Identifiers
- ISBN:9781000102390, 1000102394, 9780203887578, 0203887573
- oclc:ocm49725551
- LC Classification:RC346.4
- Dewey Decimal:616.042
Table of Contents
Cover -- Half Title -- Dedication -- Title Page -- Copyright Page -- Table of Contents -- Contributors -- Abbreviations -- Preface -- Foreword -- Chapter 1: Introduction -- Non-Mendelian inheritance -- Trinucleotide repeat diseases -- overview -- Conclusions -- References -- Chapter 2: The FRAXA fragile site and fragile X syndrome -- Introduction -- Clinical aspects -- Historical aspects -- The fragile X mutation -- The FMR1 gene -- Summary -- References -- Chapter 3: Molecular studies of the fragile sites FRAXE and FRAXF -- Introduction -- The FRAXE trinucleotide repeats
Expansion and transmission of the FRAXE trinucleotide repeat -- Molecular diagnosis of FRAXE -- Prevalence of FRAXE expansion -- Clinical phenotype of FRAXE individuals -- Patient management -- Identification of the gene FMR2 associated with FRAXE -- The FRAXF trinucleotide repeat -- Summary -- References -- Chapter 4: Myotonic dystrophy -- Introduction -- Epidemiology and prevelance -- Clinical features -- Evidence for anticipation -- Identification of the gene -- DMPK: normal function of the protein -- The mutation genotype/phenotype relationship -- Molecular phenotype of DM
Three models for the molecular mec…
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