Medical Genetics at a Glance.
Saved in:
| Online Access: |
Full text (MCPHS users only) |
|---|---|
| Main Author: | |
| Format: | Electronic eBook |
| Language: | English |
| Published: |
Wiley,
2013
|
| Series: | At a glance series (Oxford, England)
|
| Subjects: | |
| Local Note: | ProQuest Ebook Central |
Table of Contents:
- 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
