Abstract
Pseudodeficiency of arylsulfatase A is a complicating factor in the determination of metachromatic leukodystrophy risk and carrier status. A method using polymerase chain reaction and restriction enzyme digestion to detect the presence of both the mutations that contribute to arylsulfatase A pseudodeficiency is described using DNA from blood or buccal cells. Application of this technique should facilitate determination of metachromatic leukodystrophy status and counseling in families where the pseudodeficiency allele is present.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Base Sequence
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Cerebroside-Sulfatase / deficiency*
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Cerebroside-Sulfatase / genetics*
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Cheek
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DNA / analysis
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DNA / blood
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DNA Mutational Analysis
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Deoxyribonucleases, Type II Site-Specific
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Diagnosis, Differential
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Genetic Carrier Screening
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Humans
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Leukodystrophy, Metachromatic / diagnosis*
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Leukodystrophy, Metachromatic / genetics
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Molecular Sequence Data
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Point Mutation*
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Polymerase Chain Reaction / methods
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Risk Factors
Substances
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DNA
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endodeoxyribonuclease BsrI
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Deoxyribonucleases, Type II Site-Specific
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Cerebroside-Sulfatase