{"product_id":"diagnostic-genetic-testing-david-bourn-9783030855093","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\u003cb\u003eAuthor:\u003c\/b\u003e David Bourn\u003cbr\u003e\u003cb\u003eISBN-10:\u003c\/b\u003e 3030855090\u003cbr\u003e\u003cb\u003eISBN-13:\u003c\/b\u003e 9783030855093\u003cbr\u003e\u003cb\u003ePublisher:\u003c\/b\u003e Springer\u003cbr\u003e\u003cb\u003eLanguage:\u003c\/b\u003e English\u003cbr\u003e\u003cb\u003ePublished:\u003c\/b\u003e 11\/14\/2021\u003cbr\u003e\u003cb\u003ePages:\u003c\/b\u003e 131\u003cbr\u003e\u003cb\u003eFormat:\u003c\/b\u003e Hardcover\u003cbr\u003e\u003cb\u003eWeight:\u003c\/b\u003e 0.88lbs\u003cbr\u003e\u003cb\u003eSize:\u003c\/b\u003e 9.21h x 6.14w x 0.44d\u003c\/p\u003e","brand":"David Bourn","offers":[{"title":"Hardcover","offer_id":43945122300159,"sku":"9783030855093","price":37.99,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0662\/2982\/9887\/products\/img_67fae4cf-66ad-40af-bd38-9e49278c428c.jpg?v=1681506912","url":"https:\/\/www.whiterainbookhouse.com\/products\/diagnostic-genetic-testing-david-bourn-9783030855093","provider":"WR Book House","version":"1.0","type":"link"}