Screening for mutations in the antithrombin IIi gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis
Millar, D.S.; Lopez, A.; White, D.; Abraham, G.; Laursen, B.; Holding, S.; Reverter, J.C.; Reynaud, J.; Martinowitz, U.; Hayes, J.P.
Human Mutation 2(4): 324-326
ISSN/ISBN: 1059-7794 PMID: 8401542 DOI: 10.1002/humu.1380020416
This report describes a rapid and inexpensive assay, which allows detection, in whole blood and by PCR alone, of the two most frequent mitochondrial DNA mutations causing Leber's hereditary optic neuropathy. The assay is based on allele-specific amplification, using primers with the mutation-specific base in the 3' position, and a deliberately introduced G-->C substitution of base no. four from the 3' end, which prevents amplification of the wild-type allele.