Population frequency of the arylsulphatase A pseudo-deficiency allele.
Hum Genet
; 87(1): 87-8, 1991 May.
Article
in En
| MEDLINE
| ID: mdl-1674719
ABSTRACT
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%.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cerebroside-Sulfatase
Limits:
Humans
Country/Region as subject:
Oceania
Language:
En
Journal:
Hum Genet
Year:
1991
Document type:
Article
Affiliation country:
Australia