Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family
| Autor: | Nepomuk Zöllner, Ju Chen, Peter J. Stambrook, B. S. Gathof, Amrik Sahota, Ursula Gresser, Jay A. Tischfield |
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| Rok vydání: | 1991 |
| Předmět: |
Adult
Male endocrine system medicine.medical_specialty Adenine Phosphoribosyltransferase Adenine phosphoribosyltransferase Locus (genetics) Biology Polymerase Chain Reaction Kidney Calculi Exon Molecular genetics Drug Discovery Diseases in Twins medicine Consensus sequence Humans splice Gene Genetics (clinical) Genetics Genetic Carrier Screening Intron Chromosome Mapping Twins Monozygotic General Medicine Molecular biology Pedigree Mutagenesis Site-Directed Molecular Medicine |
| Zdroj: | Klinische Wochenschrift. 69:1152-1155 |
| ISSN: | 1432-1440 0023-2173 |
| Popis: | We examined the molecular basis of adenine phosphoribosyltransferase (APRT) deficiency in homozygous-deficient, identical twin brothers who were born to non-consanguineous German parents. DNA was isolated from blood, and the APRT gene was amplified by PCR, subcloned into M13, and sequenced completely. A single T insertion between bases 1831–1832 or 1832–1833 was identified. This alters the consensus sequence at the exon 4 — intron 4 splice donor site and leads to aberrant splicing. The same mutation has been described previously in two affected brothers from Belgium, and the Indianapolis group has also identified it in two other, unrelated Caucasian patients. Thus, this mutation may be a common cause of APRT deficiency in the Caucasian population. |
| Databáze: | OpenAIRE |
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