Molecular Genetics in Diseases of Brain, Nerve and Muscle

Molecular Genetics in Diseases of Brain, Nerve and Muscle

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Description

The purpose of this book is to give neurologists and others a grounding in the basic concepts of molecular genetics. It surveys the neurological and neuromuscular diseases that have been studied using these techniques. The specific diseases discussed include Duchenne and myotonic muscular dystrophies, Huntington's disease, Tay-Sachs disease, Alzheimer's disease, phenylketonuria, and mental retardation. Coverage of the book's five parts ranges from the basics of molecular genetics to the social aspects, and a comprehensive glossary is included.show more

Product details

  • Hardback | 490 pages
  • 150 x 230 x 34mm | 1,147g
  • Oxford University Press Inc
  • New York, United States
  • English
  • figures and tables throughout
  • 0195051637
  • 9780195051636

Table of contents

BACKGROUND: D. Wood: Molecular genetics: historical introduction; L. Rowland: The transformation of clinical concepts and clinical practice by molecular genetics; W. Johnson: Mendelian and non-Mendelian inheritance; THE BASICS OF MOLECULAR GENETICS: E. Schon: Prokaryotic and eukaryotic genomes; E. Schon: Transcription and regulatory elements; F. Alt: Genetically programmed and adaptive genome plasticity in mammalian cells; J. Lupski & C.T. Caskey: Mutations and human disease; P. Ray: Restriction enzymes, blots, and RFLPs; J. Sylvester: Making libraries; A. Monaco: DNA probes, library screening, DNA sequencing, and expression vectors; G. Bruns: Assigning gene loci: family structures, somatic cell hybridization, chromosome sorting, in situ hybridization, translocation; C. Smith & C. Cantor: Assigning gene loci: construction of physical maps; application in finding genes; P.M. Conneally: Assigning gene loci: linkage, crossing over, LOD scores; J.F. Hegtmaneik et al: Genetic analysis; DISEASES OF KNOWN GENE PRODUCT: R.A. Gibbs et al: Nesch-Nyhan syndrome; S. Woo: Phenylketonuria; S. Vora: Muscle phosphofructokinase and phosphorylase deficiency syndromes; R. Hirschorn et al: Acid-alpha glucosidase deficiency; R. Gravel & D. Mahuran: B-hexosaminidase deficiency; W. Fenton: Ornithine transcarbamylase; S. DiMauro & E. Schon: Mitochondrial diseases; J. Herbert: Familial amyloidotic polyneuropathies; DISEASES OF UNKNOWN GENE PRODUCT: J. Gusella: DNA markers in dominant neurogenetic diseases; A. Roses et al: Myotonic muscular dystrophy; P. Chance & T. Bird: Hereditary motor and sensory neuropathies; R. Rosenberg & A. Grossman: Hereditary ataxias; L. Kunkel: Duchenne muscular dystrophy; W. Seltzer & E. McCabe: Glycerol kinase deficiency; K. Davies: X-linked mental retardation syndromes; K. Fischbeck: Other x-linked neuromuscular diseases; SOCIAL ASPECTS OF MOLECULAR GENETICS: G. MacGregor et al: Gene replacement therapy; R.R. Howell: The ethics of gene therapy and DNA diagnosis; N. Wexler: The oracle of DNAs.show more