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The frequency of two common disease-associated mutations in the arylsulphatase A (ASA) gene, and of a mutation causing ASA pseudodeficiency, have been established in metachromatic leukodystrophy patients diagnosed in our laboratory. A total of 37 mutant genes have been analysed. The G-->A change destroying the splice donor site of exon 2 is generally associated with more severe disease and was found in 43.2% of mutant ASA genes. The C-->T transition causing a proline to leucine substitution at position 426 in exon 8 (P426-->L) is associated with later onset disease, and was found in 16.2% of mutant genes. The A-->G transition leading to loss of a polyadenylation signal associated with ASA pseudodeficiency was present at a frequency of 7.5% in the patients and heterozygotes studied.


Journal article


Hum Genet

Publication Date





73 - 77


Adenosine, Adult, Age Factors, Base Sequence, Cerebroside-Sulfatase, Child, Cytosine, Exons, Guanosine, Humans, Leukodystrophy, Metachromatic, Molecular Sequence Data, Mutation, Polymerase Chain Reaction, Prevalence, Thymidine, United Kingdom