Title |
Population frequency of the arylsulphatase A pseudo-deficiency allele
|
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Published in |
Human Genetics, January 1991
|
DOI | 10.1007/bf01213099 |
Pubmed ID | |
Authors |
Paul V. Nelson, William F. Carey, C. Phillip Morris |
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%. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 6 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 2 | 33% |
Researcher | 2 | 33% |
Other | 1 | 17% |
Unknown | 1 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 3 | 50% |
Agricultural and Biological Sciences | 1 | 17% |
Neuroscience | 1 | 17% |
Unknown | 1 | 17% |