Medical Genetics: Oxford Core Text has been designed to provide medical students with an understanding of the basic principles of human genetics as they relate to clinical practice. Taking into account the recent recommendations on teaching from the American and British Societies of Human Genetics, each of the initial chapters focuses on a traditional cornerstone of human genetics (molecular genetics, cytogenetics, Mendelian inheritance, polygenic inheritance, population genetics) with amajor emphasis on clinical relevance. These are followed by consideration of subjects of specific medical importance such as the haemoglobinopathies, developmental genetics, cancer genetics and pharmacogenetics, with due attention to topical and evolving issues such as pharmacogenomics, gene therapy and therapeutic cloning. The final chapters provide an explanation of the genetically related clinical skills and competencies expected of a medical student, together with an overview of the principles of clinical genetics, a rapidly developing clinical specialty which now impinges on almost every aspect of medical practice. Over 150 illustrations have been included to demonstrate important principles and commonly encountered genetic disorders. Each chapter contains a brief review of a major landmark publication to provide a historical context for more contemporary developments. To help sustain the student's interest and to emphasise the potential importance of genetics in medicine, large numbers of clinically related vignettes have been included covering controversial issues, such as gene patenting and the UK Biobank, together with case histories and brief biographies of famous figures from history and the arts who have suffered from, and successfully coped with, a genetic disorder.
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Gene structure and function
Chromosomes and cell division
Common chromosome disorders
14 other sections not shown
acid affected individuals allele anaemia aneuploidy approximately associated autosomal dominant autosomal dominant inheritance autosomal recessive blood cancer carrier caused by mutations centromere child chro chromatids chromo chromosome abnormalities chromosome analysis clinical cloning common condition congenital cystic fibrosis deletion drugs Duchenne muscular dystrophy encodes enzyme exon expression factors female fetal frequency gamete gene therapy genotype germline haemoglobin heterozygotes homozygotes Huntington disease identified incidence involved karyotype Key Point known large number linkage analysis loci locus male markers maternal medical genetics meiosis mental retardation metabolism mitochondrial molecular mosome multifactorial mutant allele neural tube defects normal nucleotide p-globin parents pathways pedigree phenotype polymorphic population pregnancy prenatal diagnosis protein receptor recessive inheritance recombination referred region relatives result Robertsonian translocation screening sequence show autosomal sickle-cell disease single-gene small number specific stem cells strand susceptibility synthesis testing tion transcription translocation treatment trisomy Turner syndrome unaffected usually X chromosome X-linked recessive