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| Preface | |
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| Acknowledgements | |
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| How to get the best out of your textbook | |
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| Basic principles | |
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| Medical genetics in perspective | |
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| Scientific basis of medical genetics | |
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| Clinical applications of medical genetics | |
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| The human genome | |
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| Structure and organisation of the genome | |
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| Gene identification | |
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| Th e Human Genome Project | |
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| Nucleic acid structure and function | |
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| Nucleic acid structure | |
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| Nucleic acid function | |
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| Gene regulation | |
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| DNA replication | |
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| Mutation types, eff ects and nomenclature | |
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| DNA analysis | |
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| Basic methods | |
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| Mutation detection | |
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| Indirect mutant gene tracking | |
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| Analysis of DNA length polymorphisms | |
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| Analysis of single-nucleotide polymorphisms | |
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| Chromosomes | |
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| Chromosome structure | |
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| Chromosome analysis | |
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| Chromosome heteromorphisms | |
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| Chromosomes in other species | |
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| Mitochondrial chromosomes | |
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| Mitosis | |
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| Gametogenesis | |
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| Meiosis | |
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| Spermatogenesis | |
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| Oogenesis | |
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| Fertilisation | |
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| X-inactivation and dosage compensation | |
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| Sex chromosome aberrations | |
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| Sex determination and differentiation | |
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| Genomic imprinting (parental imprinting) | |
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| Chromosome aberrations | |
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| Numerical aberrations | |
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| Structural aberrations | |
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| Cytogenetic and molecular methods for the detection of chromosomal aberrations | |
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| Identification of the chromosomal origin of complex structural rearrangements | |
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| Other aberrations | |
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| Typical Mendelian inheritance | |
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| Introduction to autosomal single-gene inheritance | |
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| Autosomal dominant inheritance | |
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| Autosomal recessive inheritance | |
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| Introduction to sex-linked inheritance | |
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| X-linked recessive inheritance | |
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| X-linked dominant inheritance | |
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| Y-linked inheritance (holandric inheritance) | |
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| Atypical Mendelian inheritance | |
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| Genetic anticipation | |
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| Pseudoautosomal inheritance | |
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| Autosomal dominant inheritance with sex limitation | |
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| Pseudodominant inheritance | |
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| X-linked dominant inheritance with male lethality | |
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| Mosaicism | |
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| Modifi er genes and digenic inheritance | |
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| Uniparental disomy | |
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| Imprinting disorders | |
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| Non-Mendelian inheritance | |
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| Multifactorial disorders | |
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| Somatic cell genetic disorders | |
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| Mitochondrial disorders | |
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| Medical genetics in populations | |
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| Selection for single-gene disorders | |
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| Founder effect and genetic drift for single-gene disorders | |
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| Altered mutation rate for single-gene disorders | |
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| Linkage analysis and the International Hapmap Project | |
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| Human population evolution and migration | |
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| Clinical applications | |
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| Genetic assessment, genetic counselling and reproductive options | |
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| Communication of advice | |
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| Special points in counselling | |
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| Prenatal diagnosis | |
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| Amniocentesis | |
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| Chorionic villus sampling | |
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| Cordocentesis, fetal skin biopsy and fetal liver biopsy | |
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| Ultrasonography | |
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| Fetal cells in the maternal circulation | |
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| Free fetal DNA and RNA detection | |
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| Preimplantation genetic diagnosis | |
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| Family history of cancer | |
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| General principles | |
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| Tumour suppressor genes | |
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| Genes involved in DNA repair mechanisms | |
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| Oncogenes | |
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| Other cancer-related genes | |
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| Genetic counselling aspects of cancer | |
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| Common familial cancer predisposition syndromes | |
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| Family history of common adult-onset disorder | |
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| General principles | |
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| Diabetes mellitus: common and monogenic forms | |
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| Dementia: Alzheimer disease, Huntington disease, prion diseases and other causes | |
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| Strong family history � typical Mendelian disease | |
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| Cystic fibrosis | |
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| Duchenne and Becker muscular dystrophies | |
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| Neurofi bromatosis type 1 | |
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| Strong family history � other inheritance mechanisms | |
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| Screening for disease and for carriers | |
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| Family history of one or more congenital malformations | |
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| Electronic databases � a user's guide | |
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| Electronic databases � a user's guide | |
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| Odds, probabilities and applications of Bayes� theorem | |
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| Calculation of the coeffi cients of relationship and inbreeding | |
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| Population genetics of single-gene disorders | |
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| Legal aspects | |