SCREENING FOR THE 2 MOST FREQUENT MUTATIONS IN LEBER HEREDITARY OPTICNEUROPATHY BY DUPLEX PCR BASED ON ALLELE-SPECIFIC AMPLIFICATION

This report describes a rapid and inexpensive assay, which allows dete ction, in whole blood and by PCR alone, of the two most frequent mitoc hondrial DNA mutations causing Leber's hereditary optic neuropathy. Th e assay is based on allele-specific amplification, using primers with the mutation-specific base in the 3' position, and a deliberately intr oduced G --> C substitution of base no. four from the 3' end, which pr events amplification of the wild-type allele. (C) 1993 Wiley-Liss, Inc .