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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About the Author:
David Bourn, Ph.D., FRCPath, is a UK-based state registered clinical scientist and the head of an NHS Regional Genetics laboratory, who has worked in the NHS for more than 25 years. Prior to his involvement in diagnostic genetics, he spent some years in research, with his Ph.D. and the bulk of his postdoctoral work in the field of human molecular genetics. His links with Human Genetics Departments go back to the 1980s and in addition to his familiarity with the evolution of genetic testing over the past three decades, he has an enduring interest in the wider implications of this testing.
