Written by leaders in the field, this book will give readers a grounding in the basic concepts and language of molecular genetics and a survey of the neurologic and neuromuscular diseases that have been studied with these techniques. Thus, it provides a primer of fundamental information
followed by lucid discussions of specific diseases. The latter include Duchenne muscular dystrophy, myotonic muscular dystrophy, Huntington disease, Tay-Sachs disease, Alzheimer's disease, phenylketonuria and mental retardation. The book has been carefully organized in five parts: Background; The
Basics of Molecular Genetics; Cloned Genes for Human Neurologic Diseases; Diseases of Known Gene Product and Diseases of Unknown Gene Product; and Social Aspects of Molecular Genetics. The definitions of terms given within the text are supplemented by a comprehensive glossary, and there are many
informative illustrations.
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.
