A comparison of single nucleotide primer extension with mispairing PCR-RFLP in detecting a point mutation.
A recent report by Petruzzella et al. (BBRC 186, 491-497, 1992) raised a question as to whether a point mutation in the mitochondrial ND2 gene (BBRC 182, 238-246, 1992) is relevant to Alzheimer's disease. The argument was based on their inability to detect the point mutation at position 5460 in codon 331 in the DNAs extracted from 15 patients with Alzheimer's disease using mispairing PCR-RFLP. To clarify the discrepancy, we tested the DNAs reported by Petruzzella et al. for the mutation by single-nucleotide primer extension. The present work confirms our previous report and extends our finding of the point mutation in 8 of the 15 AD DNAs.
New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.
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D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000201:enzymology; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D046911:Macromolecular Substances; D008875:Middle Aged; D008969:Molecular Sequence Data; D009245:NADH Dehydrogenase / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values
D004272:DNA, Mitochondrial; D046911:Macromolecular Substances; D004247:DNA; D009245:NADH Dehydrogenase