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Diagnostic Genetic Testing: Core Concepts and the Wider Context for Human dna Analysis
David Bourn
(Author)
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Springer
· Paperback
Diagnostic Genetic Testing: Core Concepts and the Wider Context for Human dna Analysis - Bourn, David
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Synopsis "Diagnostic Genetic Testing: Core Concepts and the Wider Context for Human dna Analysis"
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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The book is written in English.
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