Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
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Kondo R, Wakamatsu N, Yoshino H, Fukuhara N, Miyatake T, Tsuji S
Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
Am J Hum Genet. 1991 May;48(5):971-8.
- PubMed ID
- 1673291 [ View in PubMed]
- Abstract
To analyze the genetic abnormality in a Japanese patient with adult-type metachromatic leukodystrophy (MLD), we first elucidated the genomic organization of the human arylsulfatase A (ASA) gene and then compared the nucleotide sequences of exons and splice junctions of the mutant ASA gene to those of a normal control. We have identified a new mutation, a G-to-A transition in exon 2, which results in amino acid substitution of Asp for 99Gly. In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.