Chapter 1: Genetic testing, some themes and some basics- Brief introduction to genetic testing.
- Themes
o Complexity
o Risk and uncertainty
o DNA and identities
o Future promises and limitations
- Genetic basics
o Information storage and copying
o Chromosomes and inheritance patterns
o Genes in genomes (nuclear and mitochondrial)
o Transcription, translation and the genetic code
o Mutation
- Basic techniques of genetic testing
o DNA extraction
o Hybridisation
o PCR and DNA amplification
o Electrophoresis
o DNA sequencing
Chapter 2: Huntington disease, a severe autosomal recessive disorder
- Huntington disease (HD)
- Mutation mechanism and gain of function
- Trinucleotide repeat expansions
- Penetrance and genotype/phenotype correlation
- Anticipation
- Testing for HD and test metrics
- Rationales for testing
- Laboratory error
- Ethical problems (sharing information)
Chapter 3: Autosomal recessive inheritance and cystic fibrosis
- Cystic fibrosis (CF)
- Spectrum of mutations
- Recessive disorders in populations (founder effect)
- Testing for CF
- Rationales for testing including neonatal screening
- Prenatal diagnosis and ethical issues
- Genetics and therapy for CF
- Risk and uncertainty
Chapter 4: X-linked inheritance: a question of gender
- Chromosome number / balance (XX vs. XY) and X-inactivation
- DNA methylation and epigenetics
- DMD/BMD (genotype/phenotype correlation)
- Mosaicism
- Sharing genetic information
- Androgen receptor gene and different phenotypes
- Genetics and gender
Chapter 5: Cancer genetics: acquired and inherited mutations
- Cancer as a genetic disease
- Tumour suppressors and oncogenes in the control of growth
- Somatic/germline distinction
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