{"product_id":"diagnostic-genetic-testing-core-concepts-and-the-wider-context-for-human-dna-analysis-9783030855123","title":"Diagnostic Genetic Testing: Core Concepts and the Wider Context for Human DNA Analysis","description":"\u003cb\u003eChapter 1: Genetic testing, some themes and some basics\u003c\/b\u003e\u003cp\u003e- Brief introduction to genetic testing.\u003c\/p\u003e - Themes\u003cp\u003e\u003c\/p\u003e \u003cp\u003eo Complexity\u003c\/p\u003e \u003cp\u003eo Risk and uncertainty\u003c\/p\u003e \u003cp\u003eo DNA and identities\u003c\/p\u003e \u003cp\u003eo Future promises and limitations\u003c\/p\u003e \u003cp\u003e- Genetic basics\u003c\/p\u003e \u003cp\u003eo Information storage and copying\u003c\/p\u003e o Chromosomes and inheritance patterns\u003cp\u003e\u003c\/p\u003e \u003cp\u003eo Genes in genomes (nuclear and mitochondrial)\u003c\/p\u003e \u003cp\u003eo Transcription, translation and the genetic code\u003c\/p\u003e \u003cp\u003eo Mutation\u003c\/p\u003e \u003cp\u003e- Basic techniques of genetic testing\u003c\/p\u003e \u003cp\u003eo DNA extraction\u003c\/p\u003e \u003cp\u003eo Hybridisation\u003c\/p\u003e o PCR and DNA amplification\u003cp\u003e\u003c\/p\u003e \u003cp\u003eo Electrophoresis\u003c\/p\u003e \u003cp\u003eo DNA sequencing\u003c\/p\u003e \u003cp\u003e \u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 2: Huntington disease, a severe autosomal recessive disorder\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003c\/p\u003e \u003cp\u003e- Huntington disease (HD)\u003c\/p\u003e \u003cp\u003e- Mutation mechanism and gain of function\u003c\/p\u003e \u003cp\u003e- Trinucleotide repeat expansions\u003c\/p\u003e \u003cp\u003e- Penetrance and genotype\/phenotype correlation\u003c\/p\u003e \u003cp\u003e- Anticipation\u003c\/p\u003e \u003cp\u003e- Testing for HD and test metrics\u003c\/p\u003e - Rationales for testing\u003cp\u003e\u003c\/p\u003e \u003cp\u003e- Laboratory error\u003c\/p\u003e \u003cp\u003e- Ethical problems (sharing information)\u003c\/p\u003e \u003cp\u003e \u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 3: Autosomal recessive inheritance and cystic fibrosis\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e- Cystic fibrosis (CF)\u003c\/p\u003e \u003cp\u003e- Spectrum of mutations\u003c\/p\u003e \u003cp\u003e- Recessive disorders in populations (founder effect)\u003c\/p\u003e - Testing for CF\u003cp\u003e\u003c\/p\u003e \u003cp\u003e- Rationales for testing including neonatal screening\u003c\/p\u003e \u003cp\u003e- Prenatal diagnosis and ethical issues\u003c\/p\u003e \u003cp\u003e- Genetics and therapy for CF\u003c\/p\u003e \u003cp\u003e- Risk and uncertainty\u003c\/p\u003e \u003cp\u003e \u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 4: X-linked inheritance: a question of gender\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e- Chromosome number \/ balance (XX vs. XY) and X-inactivation\u003c\/p\u003e \u003cp\u003e- DNA methylation and epigenetics\u003c\/p\u003e \u003cp\u003e- DMD\/BMD (genotype\/phenotype correlation)\u003c\/p\u003e - Mosaicism\u003cp\u003e\u003c\/p\u003e \u003cp\u003e- Sharing genetic information\u003c\/p\u003e \u003cp\u003e- Androgen receptor gene and different phenotypes\u003c\/p\u003e \u003cp\u003e- Genetics and gender\u003c\/p\u003e \u003cp\u003e \u003c\/p\u003e \u003cp\u003e\u003cb\u003eChapter 5: Cancer genetics: acquired and inherited mutations\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e- Cancer as a genetic disease\u003c\/p\u003e \u003cp\u003e- Tumour suppressors and oncogenes in the control of growth\u003c\/p\u003e \u003cp\u003e- Somatic\/germline distinction\u003c\/p\u003e \u003cp\u003e- \u0026amp;\u003cbr\u003e\u003cbr\u003e\u003cbr\u003e\u003cb\u003eAbout the Author\u003c\/b\u003e\u003cbr\u003e\u003c\/p\u003e\u003cp\u003eDavid 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.\u003cbr\u003e\u003c\/p\u003e\u003cbr\u003e","brand":"Springer","offers":[{"title":"Default Title","offer_id":50390907650322,"sku":"9783030855123","price":27.99,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0831\/4771\/8930\/files\/img_39e159a1-4202-4873-9529-15b24935d07b.jpg?v=1728960369","url":"https:\/\/surprise-castle.myshopify.com\/products\/diagnostic-genetic-testing-core-concepts-and-the-wider-context-for-human-dna-analysis-9783030855123","provider":"Surprise Castle","version":"1.0","type":"link"}