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) ma y detect any of a series of such mutations following amplification by the polymerase chain reaction. This paper illustrates the use of UHG-b ased DNA heteroduplex analysis by describing the construction, propert ies, and methods of use of five UHGs, designed for genetic screening a nd testing of the inherited metabolic diseases: phenylketonuria, sickl e-cell disease, cystic fibrosis, von Willebrand's disease type 2B, and mamman-binding lectin deficiency. In all cases, identification of mul tiple disease-associated genotypes is possible using a single UHG.