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Essential Medical Genetics
| Autor principal: | |
|---|---|
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Newark :
John Wiley & Sons, Incorporated,
2011.
|
| Colección: | New York Academy of Sciences Ser.
|
| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- Intro
- Title page
- Table of Contents
- Preface
- Acknowledgements
- How to get the best out of your textbook
- Part 1: Basic Principles
- Medical genetics in perspective
- Scientific basis of medical genetics
- Clinical applications of medical genetics
- The human genome
- Structure and organisation of the genome
- Gene identification
- The Human Genome Project
- Nucleic acid structure and function
- Nucleic acid structure
- Nucleic acid function
- Gene regulation
- DNA replication
- Mutation types, effects and nomenclature
- DNA analysis
- Basic methods
- Mutation detection
- Indirect mutant gene tracking
- Analysis of DNA length polymorphisms
- Analysis of single nucleotide polymorphisms
- Chromosomes
- Chromosome structure
- Chromosome analysis
- Chromosome heteromorphisms
- Chromosomes in other species
- Mitochondrial chromosomes
- Mitosis
- Gametogenesis
- Meiosis
- Spermatogenesis
- Oogenesis
- Fertilisation
- X-inactivation and dosage compensation
- Sex chromosome aberrations
- Sex determination and differentiation
- Genomic imprinting (parental imprinting)
- Chromosome aberrations
- Numerical aberrations
- Structural aberrations
- Cytogenetic and molecularm ethods for the detection of chromosomal aberrations
- Identification of the chromosomal origin of complex structural rearrangements
- Typical mendelian inheritance
- Introduction to autosomal single-gene inheritance
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Introduction to sex linked inheritance
- X-linked recessive inheritance
- X-linked dominant inheritance
- Y-linked inheritance (holandric inheritance)
- Atypical mendelian inheritance
- Genetic anticipation
- Pseudoautosomal inheritance
- Autosomal dominant inheritance with sex limitation
- Pseudodominant inheritance
- X-linked dominant inheritance with male lethality
- Mosaicism
- Modifier genes and digenic inheritance
- Uniparental disomy
- Imprinting disorders
- Non-mendelian inheritance
- Multifactorial disorders
- Mitochondrial disorders
- Somatic cell genetic disorders
- Medical genetics in populations
- Selection for single-gene disorders
- Founder effect and genetic drift for single-gene disorders
- Altered mutation rate for single-gene disorders
- Linkage analysis and the International HapMap Project
- Human population evolution and migration
- Part 2: Clinical Applications
- Genetic assessment, genetic counselling and reproductive options
- Communication of advice
- Special points in counselling
- Prenatal diagnosis
- Amniocentesis
- Chorionic villus sampling
- Cordocentesis, fetal skin biopsy and fetal liver biopsy
- Ultrasonography
- Fetal cells in the maternal circulation
- Free fetal DNA and RNA detection
- Preimplantation genetic diagnosis
- Family history of cancer
- General principles
- Tumour suppressor genes
- Genes involved in DNA repair mechanisms
- Oncogenes