Essential Medical Genetics.

Intro -- Title page -- Table of Contents -- Preface -- Acknowledgements -- How to get the best out of your textbook -- Part 1: Basic Principles -- Medical genetics in perspective -- Scientific basis of medical genetics -- Clinical applications of medical genetics -- The human genome -- Structure and organisation of the genome -- Gene identification -- The Human Genome Project -- Nucleic acid structure and function -- Nucleic acid structure -- Nucleic acid function -- Gene regulation -- DNA replication -- Mutation types, effects and nomenclature -- DNA analysis -- Basic methods -- Mutation detection -- Indirect mutant gene tracking -- Analysis of DNA length polymorphisms -- Analysis of single nucleotide polymorphisms -- Chromosomes -- Chromosome structure -- Chromosome analysis -- Chromosome heteromorphisms -- Chromosomes in other species -- Mitochondrial chromosomes -- Mitosis -- Gametogenesis -- Meiosis -- Spermatogenesis -- Oogenesis -- Fertilisation -- X-inactivation and dosage compensation -- Sex chromosome aberrations -- Sex determination and differentiation -- Genomic imprinting (parental imprinting) -- Chromosome aberrations -- Numerical aberrations -- Structural aberrations -- Cytogenetic and molecularm ethods for the detection of chromosomal aberrations -- Identification of the chromosomal origin of complex structural rearrangements -- Typical mendelian inheritance -- Introduction to autosomal single-gene inheritance -- Autosomal dominant inheritance -- Autosomal recessive inheritance -- Introduction to sex linked inheritance -- X-linked recessive inheritance -- X-linked dominant inheritance -- Y-linked inheritance (holandric inheritance) -- Atypical mendelian inheritance -- Genetic anticipation -- Pseudoautosomal inheritance -- Autosomal dominant inheritance with sex limitation -- Pseudodominant inheritance.

X-linked dominant inheritance with male lethality -- Mosaicism -- Modifier genes and digenic inheritance -- Uniparental disomy -- Imprinting disorders -- Non-mendelian inheritance -- Multifactorial disorders -- Mitochondrial disorders -- Somatic cell genetic disorders -- Medical genetics in populations -- Selection for single-gene disorders -- Founder effect and genetic drift for single-gene disorders -- Altered mutation rate for single-gene disorders -- Linkage analysis and the International HapMap Project -- Human population evolution and migration -- Part 2: Clinical Applications -- Genetic assessment, genetic counselling and reproductive options -- Communication of advice -- Special points in counselling -- Prenatal diagnosis -- Amniocentesis -- Chorionic villus sampling -- Cordocentesis, fetal skin biopsy and fetal liver biopsy -- Ultrasonography -- Fetal cells in the maternal circulation -- Free fetal DNA and RNA detection -- Preimplantation genetic diagnosis -- Family history of cancer -- General principles -- Tumour suppressor genes -- Genes involved in DNA repair mechanisms -- Oncogenes -- Other cancer-related genes -- Genetic counselling aspects of cancer -- Common familial cancer predisposition syndromes -- Family history of common adult-onset disorder -- General principles -- Diabetes mellitus: common and monogenic forms -- Strong family history - typical mendelian disease -- Cystic fibrosis -- Duchenne and becker muscular dystrophies -- Neurofibromatosis type 1 -- Strong family history - other inheritance mechanisms -- Myotonic dystrophy -- Fragile X syndrome -- Mitochondrial disorder -- Imprinting-related disorder -- Chromosomal translocation -- Screening for disease and for carriers -- Prenatal screening -- Neonatal screening -- Carrier detection in the adult population -- Presymptomatic screening of adults.

Family history of one or more congenital malformations -- Aetiology -- Chromosomal disorders -- Neural tube defects -- Teratogenic effects -- Multiple malformation syndromes -- Part 3: Electronic databases - A user's guide -- Electronic databases - A user's guide -- Finding information regardings pecific conditions and names of associated genes -- Laboratories undertaking genetic testing -- Patient information and support groups -- Gene and protein specific sequence, structure, function and expression information -- Nucleotide sequences and human mutations -- Automatic primer design tools -- Displaying map data for genes and markers -- Online missense mutation analysis tools -- Computer aided syndrome diagnosis -- Professional genetics societies -- The human genome project: ethics and education -- Maintenance of gene frequencies -- Self - a ssessment -- APPENDIX 1: Odds, probabilities and applications of Bayes' theorem -- APPENDIX 2: Calculation of the coefficients of relationshipand inbreeding -- APPENDIX 3: Population genetics of single-gene disorders -- APPENDIX 4: Legal aspects -- Glossary -- Index.

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Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.