Molecular Basis of Inherited Disease

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Progress in the molecular analysis of human genetic disease has been very rapid over the last three years since the first edition of this book was published. Most of the genes involved in the more common monogenic disorders have been identified and many of the rarer disorders have now been mapped to chromosomal regions. This thoroughly updated edition discusses these developments in detail. The techniques available for gene mapping have changed substantially thus facilitating isolation of disease genes from ...
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1992 Trade paperback 2nd ed. New. No dust jacket as issued. Trade paperback (US). Glued binding. 108 p. Contains: Illustrations. Audience: General/trade. slightly shelfworn & ... aged. Read more Show Less

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Overview


Progress in the molecular analysis of human genetic disease has been very rapid over the last three years since the first edition of this book was published. Most of the genes involved in the more common monogenic disorders have been identified and many of the rarer disorders have now been mapped to chromosomal regions. This thoroughly updated edition discusses these developments in detail. The techniques available for gene mapping have changed substantially thus facilitating isolation of disease genes from their chromosomal positions. Animal models are being created to allow the detailed study of disease processes. The second edition fully covers these advancements and should be a valuable reference for students, clinicians, and researchers in the biological sciences.

Overview of genes & markers, identification of genes in human disease, molecular basis of inheritance.

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Product Details

  • ISBN-13: 9780199633074
  • Publisher: Oxford University Press, USA
  • Publication date: 11/12/1992
  • Series: In Focus Series
  • Edition description: 2nd ed
  • Edition number: 2
  • Pages: 108
  • Product dimensions: 6.19 (w) x 9.00 (h) x 0.23 (d)

Meet the Author

John Radcliffe Hospital, Oxford

University of Manchester

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Table of Contents

Abbreviations
1 Genes and markers 1
Forward and reverse genetics 1
Genetic markers 2
Why use markers? 2
The polymorphism information content of a marker 3
Types of genetic markers 3
Studying DNA sequence variants 5
DNA hybridization assay 5
Polymerase chain reaction (PCR) assay 6
Detecting single base changes in DNA 7
2 Locating genes 15
Introduction: genetic and physical mapping 15
Gene mapping by physical methods 15
In situ hybridization 16
Somatic cell hybrids 18
Chromosome abnormalities and loss of heterozygosity 19
X-inactivation and X-autosome translocations 20
Modes of inheritance 20
Autosomal codominant inheritance 21
Autosomal dominant inheritance 21
Autosomal recessive inheritance 23
X-linked inheritance 24
Gene mapping by linkage studies 25
Analysis of linkage studies 27
Multi-locus linkage analysis 28
Sib pair analysis 29
Disease associations and linkage disequilibrium 31
Genetic diagnosis 32
Direct tests for mutant alleles 32
Gene tracking 33
3 The identification of genes in human inherited disease 37
mRNA enrichment of specific mRNA populations 37
Populations of mRNA in eukaryotic cells 37
Abundant sequences 38
Low abundance sequences 38
Complementation and gene rescue 41
Expression screening 41
Oligonucleotide screening 42
Cloning of chromosome breakpoints 42
Genomic enrichment 43
Chromosomal sorting 44
Reassociation techniques 45
Chromosome-mediated gene transfer 46
Alu-PCR 49
Microdissection 49
Identification of candidate genes 50
Pulsed field electrophoresis 50
HTF islands 54
Jumping and linking libraries 54
Sequence conservation - 'zoo' blots 58
Yeast artificial chromosomes (YAC) 58
Exon trapping 59
In situ hybridization 59
4 The molecular basis of human inherited disease 63
Mutations affecting the [beta]-globin gene 64
Gene deletion 64
Transcriptional mutants 65
RNA processing mutations 66
RNA cleavage signal mutations 68
Nonsense and frameshift mutations 68
Mutations in other genetic disorders 69
[alpha]-thalassaemia 69
Familial hypercholesterolaemia 70
Duchenne muscular dystrophy 70
Haemophilia A 73
Cystic fibrosis 75
Neurofibromatosis type 1 76
Genomic imprinting: Prader - Willi syndrome 77
The fragile X syndrome 77
Mouse models of human genetic disease 79
The human genome mapping project 80
Gene therapy 80
Glossary 87
Glossary of genetic diseases 91
Index 93
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