Genetic screening and testing by induced heteroduplex formation.
Clustered point mutations and small deletions or insertions within DNA are amenable to rapid analysis using induced heteroduplex formation. A single synthetic molecule (universal heteroduplex generator, UHG) may detect any of a series of such mutations following amplification by the polymerase chain reaction. This paper illustrates the use of UHG-based DNA heteroduplex analysis by describing the construction, properties, and methods of use of five UHGs, designed for genetic screening and testing of the inherited metabolic diseases: phenylketonuria, sickle-cell disease, cystic fibrosis, von Willebrand's disease type 2B, and mamman-binding lectin deficiency. In all cases, identification of multiple disease-associated genotypes is possible using a single UHG.
Department of Transplantation Sciences, University of Bristol, UK.
N
N
Wood
J
J
Bidwell
D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D037102:Lectins; D008351:Mannans; D008969:Molecular Sequence Data; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics; D014842:von Willebrand Diseases / Q000175:diagnosis / Q000235:genetics
D002352:Carrier Proteins; D037102:Lectins; D008351:Mannans; D009692:Nucleic Acid Heteroduplexes