Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments.

Abstract excerpt

Mutations causing metachromatic leukodystrophy and pseudo-deficiency were detected in the arylsulfatase A gene by methods based on different wild-type and mutant restriction sites. After polymerase chain reaction amplification of fragments of the arylsulfatase A gene and digestion by the appropriate endonuclease, the mixtures were separated by polyacrylamide gel electrophoresis and visualized by ethidium bromide...

Topics

• Alleles
• Base Sequence
• Cerebroside-Sulfatase
• DNA Primers
• Diagnosis, Differential
• Exons
• Humans
• Leukocytes
• Leukodystrophy, Metachromatic
• Molecular Sequence Data
• Point Mutation