Human Genetics

, Volume 87, Issue 1, pp 87–88 | Cite as

Population frequency of the arylsulphatase A pseudo-deficiency allele

  • Paul V. Nelson
  • William F. Carey
  • C. Phillip Morris
Short Communications


The enzymatic diagnosis of metachromatic leukodystrophy is complicated by the frequent occurrence of the pseudo-deficiency of arylsulphatase A (ASA) enzyme activity. An A to G nucleotide transition in the first polyadenylation signal of the ASA gene results in the loss of its major mRNA species and a greatly reduced level of enzyme activity. This nucleotide change (nucleotide 1620 of the ASA cDNA) is the cause of ASA pseudo-deficiency and is closely linked to another A to G transition (nucleotide 1049), within the ASA gene, which changes Asn350 to serine but which does not affect ASA activity. The distribution of these 2 nucleotide changes has been investigated in 73 unrelated individuals from the Australian population. The two transitions were found together on 14 (9.6%) out of 146 chromosomes. The transition at nucleotide 1620 was not found alone; however, the other transition was found alone on 7 (4.8%) out of the 146 chromosomes. The carrier frequency of the ASA pseudo-deficiency mutation in Australia is thus estimated to be about 20%.


Nucleotide Enzyme Activity Serine Metabolic Disease Frequent Occurrence 
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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Paul V. Nelson
    • 1
  • William F. Carey
    • 1
  • C. Phillip Morris
    • 1
  1. 1.Department of Chemical PathologyAdelaide Children's HospitalNorth AdelaideAustralia

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