Genetics terminology for respiratory physicians.
Genes affect our susceptibility to almost all diseases, from the rare single gene disorders such as cystic fibrosis to common multifactorial disorders such as asthma. They also influence our response to specific therapies. Scientific advances in genetics, starting with projects such as the mapping of the human genome [International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004; 431: 931-945] are likely to improve healthcare in the coming decades. Internationally, government initiatives have been established to address strategies to implement these changes [NHS Genetics White Paper. "Our Inheritance - Our Future": Realising the potential of Genetics in the NHS. UK: Department of Health 2003; Family Health History Initiative. National Human Genome Research Institute and Office of Surgeon General, Department of Health and Human Services. 2004]. A knowledge of basic genetic principles and familiarity with genetic 'jargon' associated with new technologies will be important for those practicing in this era of 'genomic medicine' [Collins FS, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature 2003; 422; April 24; 835-847]. The aim of this article is to review genetic terminology using examples from paediatric respiratory medicine.
Collins
Felicity A
FA
Dept of Clinical Genetics, Children's Hospital at Westmead Clinical School, Locked Bag 4001, Westmead, New South Wales 2145, Australia. feliciC2@chw.edu.au
D001249:Asthma / Q000235:genetics*; D002874:Chromosome Mapping; D018389:Codon, Nonsense; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004261:DNA Replication / Q000502:physiology; D006801:Humans; D015810:Linkage Disequilibrium; D018895:Microsatellite Repeats; D020125:Mutation, Missense; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D015272:Pulmonary Medicine; D009626:Terminology as Topic; D014158:Transcription, Genetic / Q000235:genetics
D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator