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.