Deletion of Exon 18 Is a Frequent Mutation in Glycogen Storage Disease Type II
| Autor: | W. J. Kleijer, Agnes G. A. Bijvoet, M. P. Verbeet, Marijke Joosse, M. Van De Kraan, Marian A. Kroos, A.J.J. Reuser |
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| Rok vydání: | 1994 |
| Předmět: |
Molecular Sequence Data
Restriction Mapping Biophysics Biology medicine.disease_cause Polymerase Chain Reaction Biochemistry Exon Restriction map Tandem repeat Reference Values Glycogen storage disease type II medicine Humans Deoxyribonucleases Type II Site-Specific Molecular Biology Allele frequency Gene DNA Primers Repetitive Sequences Nucleic Acid Sequence Deletion Genetics Mutation Base Sequence Glycogen Storage Disease Type II Intron alpha-Glucosidases Exons Cell Biology medicine.disease Molecular biology Blotting Southern Gene Deletion |
| Zdroj: | Biochemical and Biophysical Research Communications. 203:1535-1541 |
| ISSN: | 0006-291X |
| Popis: | An abnormal 2.3 kb SacI fragment of the human lysosomal alpha-glucosidase gene (GAA) was identified in patients with glycogen storage disease type II. The fragment results from deletion of exon 18 and adjacent parts of intron 17 and 18. The borders of the deletion are marked by the occurrence of an eight nucleotide long tandem repeat (AGGGGCCG) which is apparently instrumental in the mutation event. The exon 18 deletion was demonstrated in 10 out of 39 patients from Europe (all hetero-allelic) and is so far the most common mutation in this disease (allele frequency among patients is 0.13). |
| Databáze: | OpenAIRE |
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