[Genetic variation and genetic diseases].
Detailed knowledge of the genetic make-up of individuals, revealed by examination of their DNA, is emerging as a significant component in medical diagnosis. Sometimes direct examination of DNA can determine whether a mutant gene is present or not. In other instances the genetic constitution of an individual can be inferred by use of genetic markers known to be close to the gene. The applications of this new level of knowledge are far reaching, extending to disease predisposition to several illness and responses to infectious agents. The use of DNA polymorphisms associated with linked DNA segments should permit diagnosis of hitherto undetectable disease states and also chromosomal localization of the loci responsible. The eventual isolation of the gene itself should lead to a better understanding of the molecular basis of inherited disease.
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D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D004247:DNA / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004247:DNA
Genetisk variasjon og genetiske sykdommer.