Recent Articles

Kostrikis LG, Tyagi S, Mhlanga MM, Ho DD, Kramer FR. (1998).
Spectral genotyping of human alleles.
Science. 1998 Feb 20;279(5354):1228-9
PMID: 9508692

Accelerated by the human genome project, an increasing number of genetic variations, many as small as a single nucleotide substitution, have been found to play a significant role in human disease. Although direct sequencing is adequate for their detection, simpler and faster automated methods are necessary for population studies and clinical diagnostics. Alternative methods currently in use selectively amplify a region of DNA and then examine it for the presence of a mutation, either by gel electrophoresis or by hybridization with nucleic acid probes. However, electrophoretic techniques miss some mutations, and additional steps must be taken after hybridization, such as isolation of the hybrids, removal of nonhybridized probes, and the generation of detectable signals in complex enzymatic reactions. Moreover, the manipulations required for both electrophoresis and hybridization are difficult to automate, and the handling of the amplified DNA creates a risk of contaminating untested samples.