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Rapid Detection of Common Mutation of Arylsulfatase A in Metachromatic Leukodystrophy by Polymerase Chain Reaction With a Mismatched Primer

Division of Inherited Metabolic Disease National Institute of Neuroscience, National Center of Neurology and Psychiatry

Masayuki Sasaki, MD

Division of Inherited Metabolic Disease National Institute of Neuroscience, National Center of Neurology and Psychiatry

Junko Takahashi, MD

Department of Neurology Iwate Medical University, Tokyo, Japan

Norio Sakuragawa, MD

Division of Inherited Metabolic Disease National Institute of Neuroscience, National Center of Neurology and Psychiatry

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. (J Child Neurol 1994;9:38-40).

Journal of Child Neurology, Vol. 9, No. 1, 38-40 (1994)
DOI: 10.1177/088307389400900108


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