Medical Genetics at a Glance.

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Pritchard, D. J. (Dorian J.)
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Wiley, 2013.
Colección:At a glance series (Oxford, England)
Temas:
Medical genetics.
Developmental biology.
Genetics, Medical
Developmental Biology
Génétique médicale.
Biologie du développement.
Developmental biology
Medical genetics
Electronic books.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Cover
  • Title page
  • Copyright page
  • Contents
  • Preface to the first edition
  • Preface to the third edition
  • Acknowledgements
  • List of abbreviations
  • Part 1 : Overview
  • 1: The place of genetics in medicine
  • The case for genetics
  • Genes in development
  • Genotype and phenotype
  • Genetics in medicine
  • The application of genetics
  • Part 2 : The Mendelian approach
  • 2: Pedigree drawing
  • Overview
  • The medical history
  • Rules for pedigree diagrams
  • The practical approach
  • Use of pedigrees
  • 3: Mendel's laws
  • Overview
  • The principle of unit inheritance
  • The principle of dominance
  • The principle of segregation
  • Example
  • The principle of independent assortment
  • Example
  • The test-mating
  • Matings between double heterozygotes
  • Biological support for Mendel's laws
  • Exceptions to Mendel's laws
  • 1. Sex-related effects
  • 2. Mitochondrial inheritance
  • 3. Genetic linkage
  • 4. Polygenic conditions
  • 5. Overdominance, codominance, variable expressivity and incomplete penetrance
  • 6. Genomic imprinting
  • 7. Dynamic mutation
  • 8. Meiotic drive
  • Conclusion
  • 4: Principles of autosomal dominant inheritance and pharmacogenetics
  • Overview
  • Rules for autosomal dominant inheritance
  • Example
  • Estimation of risk
  • Estimation of mutation rate
  • Pharmacogenetics
  • Debrisoquine hydroxylase deficiency (AR)
  • Porphyria variegata (AD)
  • G6PD deficiency (X-linked R) (see Chapter 11)
  • N-acetyl transferase deficiency (AR)
  • Pseudocholinesterase deficiency (AR)
  • Halothane sensitivity, malignant hyperthermia (genetically heterogeneous)
  • Thiopurine methyltransferase deficiency (ACo-D)
  • 5: Autosomal dominant inheritance, clinical examples
  • Overview
  • Disorders of the fibroblast growth factor receptors
  • Achondroplasia
  • Marfan syndrome (MFS)
  • Familial hypercholesterolaemia (FH)
  • Dentinogenesis imperfecta 1 (DGI)
  • Otosclerosis 1 (OTSC1)
  • Adult polycystic kidney disease (APKD, PKD)
  • Multiple hereditary exostoses (EXT)
  • 6: Autosomal recessive inheritance, principles
  • Overview
  • Rules for autosomal recessive inheritance
  • Example: albinism
  • Estimation of risk
  • Example: congenital deafness
  • 7: Consanguinity and major disabling autosomal recessive conditions
  • Overview
  • Management issues
  • Consanguineous matings
  • Incestuous matings
  • Brother-sister matings
  • Parent-child matings
  • Risk for offspring
  • First cousin marriages
  • Mental handicap
  • Oculocutaneous albinism
  • Recessive blindness
  • Retinitis pigmentosa (RP)
  • Severe congenital deafness
  • Connexin 26 defects (CX26)
  • Pendred syndrome (PDS)
  • 8: Autosomal recessive inheritance, life-threatening conditions
  • Overview
  • Cystic fibrosis (CF)
  • Tay-Sachs disease, GM2 gangliosidosis
  • Phenylketonuria (PKU)
  • Spinal muscular atrophy (SMA)
  • 9: Aspects of dominance
  • Overview
  • Codominance (Co-D), the ABO blood groups
  • Incomplete dominance, overdominance and heterosis

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