Molecular basis of genetic disease and molecular methods.
Nucleic acid testing is possible because of the physical and biomechanical properties of DNA and RNA such as hybridization, which also form the basis for the physiologic role of nucleic acids. The entire framework of genetic analysis involves the nucleotide sequence of genes, intragenic structure, supragene organization, and mapping of genes onto chromosomes. Genetic diseases are the consequence of mutations affecting one to many nucleotides. Such genetic alterations are detectable by several special assays for examining nucleic acids that are now common in genetic laboratories.
McPherson
R A
RA
Department of Pathology, Medical College of Virginia, Richmond 23298-0258, USA.
D002874:Chromosome Mapping; D005784:Gene Amplification; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology / Q000379:methods*; D009154:Mutation; D009696:Nucleic Acids / Q000737:chemistry / Q000302:isolation & purification*; D017422:Sequence Analysis, DNA
D009696:Nucleic Acids