Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.
We have completely sequenced the adenine phosphoribosyltransferase (APRT) gene from each of six patients--five (I-V) from Iceland and one (VI) from Britain. Cases I and II shared a common ancestor six and seven generations ago, and cases I and V shared a common ancestor seven generations ago, but ca...
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ftpubmed:oai:pubmedcentral.nih.gov:1686459 2023-05-15T16:50:59+02:00 Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. Chen, J Sahota, A Laxdal, T Scrine, M Bowman, S Cui, C Stambrook, P J Tischfield, J A 1991-12 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1686459 http://www.ncbi.nlm.nih.gov/pubmed/1746557 en eng http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1686459 http://www.ncbi.nlm.nih.gov/pubmed/1746557 Research Article Text 1991 ftpubmed 2013-08-31T12:20:56Z We have completely sequenced the adenine phosphoribosyltransferase (APRT) gene from each of six patients--five (I-V) from Iceland and one (VI) from Britain. Cases I and II shared a common ancestor six and seven generations ago, and cases I and V shared a common ancestor seven generations ago, but cases III and IV were unrelated to the above or to each other, over seven generations. Genomic DNA was amplified by PCR, subcloned into M13mp18, and sequenced. Genomic and PCR-amplified DNAs were also analyzed by restriction-enzyme digestion and Southern blotting. The same missense mutation was identified in all six patients. This mutation leads to the replacement of asp (GAC) by val (GTC), at amino acid position 65. The gene sequences from all patients were otherwise identical to our wild-type sequence. The homozygous nature of the mutation was confirmed by sequencing the PCR product directly. All six patients were homozygous for the 1.25-kb TaqI RFLP. The Icelandic patients were also homozygous for the 8-kb SphI RFLP, but the British patient was heterozygous at this site. These studies suggest that a founder effect is likely to be responsible for APRT deficiency in the Icelandic population. The finding of the same mutation in a patient from Britain suggests that this mutation may have originated in mainland Europe. Text Iceland PubMed Central (PMC) |
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Research Article Chen, J Sahota, A Laxdal, T Scrine, M Bowman, S Cui, C Stambrook, P J Tischfield, J A Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. |
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Research Article |
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We have completely sequenced the adenine phosphoribosyltransferase (APRT) gene from each of six patients--five (I-V) from Iceland and one (VI) from Britain. Cases I and II shared a common ancestor six and seven generations ago, and cases I and V shared a common ancestor seven generations ago, but cases III and IV were unrelated to the above or to each other, over seven generations. Genomic DNA was amplified by PCR, subcloned into M13mp18, and sequenced. Genomic and PCR-amplified DNAs were also analyzed by restriction-enzyme digestion and Southern blotting. The same missense mutation was identified in all six patients. This mutation leads to the replacement of asp (GAC) by val (GTC), at amino acid position 65. The gene sequences from all patients were otherwise identical to our wild-type sequence. The homozygous nature of the mutation was confirmed by sequencing the PCR product directly. All six patients were homozygous for the 1.25-kb TaqI RFLP. The Icelandic patients were also homozygous for the 8-kb SphI RFLP, but the British patient was heterozygous at this site. These studies suggest that a founder effect is likely to be responsible for APRT deficiency in the Icelandic population. The finding of the same mutation in a patient from Britain suggests that this mutation may have originated in mainland Europe. |
format |
Text |
author |
Chen, J Sahota, A Laxdal, T Scrine, M Bowman, S Cui, C Stambrook, P J Tischfield, J A |
author_facet |
Chen, J Sahota, A Laxdal, T Scrine, M Bowman, S Cui, C Stambrook, P J Tischfield, J A |
author_sort |
Chen, J |
title |
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. |
title_short |
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. |
title_full |
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. |
title_fullStr |
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. |
title_full_unstemmed |
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. |
title_sort |
identification of a single missense mutation in the adenine phosphoribosyltransferase (aprt) gene from five icelandic patients and a british patient. |
publishDate |
1991 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1686459 http://www.ncbi.nlm.nih.gov/pubmed/1746557 |
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Iceland |
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Iceland |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1686459 http://www.ncbi.nlm.nih.gov/pubmed/1746557 |
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1766041096962441216 |