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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

Summary

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%.

Keywords

Nucleotide Enzyme Activity Serine Metabolic Disease Frequent Occurrence 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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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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