Rapid detection of common mutation of arylsulfatase A in metachromatic leukodystrophy by polymerase chain reaction with a mismatched primer

T. Ohshima, M. Sasaki, J. Takahashi, N. Sakuragawa

Research output: Contribution to journalArticle

1 Citation (Scopus)


The most common mutation in late-onset metachromatic leukodystrophy is a cytosine-to-thymine substitution in exon VIII. This mutation caused a substitution of leucine for proline at amino acid residue 426. We developed a rapid and simple method for the detection of 426Pro → Leu mutation by polymerase chain reaction with mismatched primer. Although the 426Pro → Leu mutation does not alter recognition sequence for restriction enzymes, we created a Pst I restriction site using a 3'-primer mismatched at one nucleotide. As a result, the mutation can be detected as a Pst I restriction fragment length polymorphism.

Original languageEnglish
Pages (from-to)38-40
Number of pages3
JournalJournal of Child Neurology
Issue number1
Publication statusPublished - 1994 Jan 1


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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