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Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele‐specific amplification
Author(s) -
Nørby Søren
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020412
Subject(s) - biology , allele , genetics , leber's hereditary optic neuropathy , optic neuropathy , mutation , polymerase chain reaction , microbiology and biotechnology , mitochondrial dna , base pair , point mutation , dna , gene , optic nerve , neuroscience
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. © 1993 Wiley‐Liss, Inc.