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| PROTEIN TRUNCATION TEST (PTT) FOR RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS |
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| Author(s): ROEST PAM, ROBERTS RG, SUGINO S, VANOMMEN GJB, DENDUNNEN JT |
| Source: HUMAN MOLECULAR GENETICS Volume: 2 Issue: 10 Pages: 1719-1721 Published: OCT 1993 |
| Times Cited: 219 References: 10 |
| Abstract: Currently available techniques used to recognize point mutations in genetic disease are time consuming and are capable of screening only small pieces of DNA. Moreover, they detect all sequence differences including phenotypically silent changes. Consequently, they are not convenient to analyse mutations in large, multi-exonic genes, where a large fraction of pathological point mutations arises from early termination, as is the case for the one third non-deletion/duplication cases of Duchenne Muscular Dystrophy. We have developed a rapid and sensitive method, the Protein Truncation Test (PTT). PTT is based on a combination of RT-PCR, transcription and translation and selectively detects translation-terminating mutations. We demonstrate its effectiveness to detect point mutations in DMD-patients and carrier females. PTT should be widely applicable diagnostically in any disease where early terminations contribute substantially to the disease cause. |
| Document Type: Article |
| Language: English |
Addresses:
1. LEIDEN UNIV, SYLVIUS LAB, DEPT HUMAN GENET, WASSENAARSEWEG 72, 2333 AL LEIDEN, NETHERLANDS
2. GUYS HOSP, DIV MED & MOLEC GENET, PAEDIAT RES UNIT, LONDON SE1 9RT, ENGLAND |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: MC223 |
| ISSN: 0964-6906 |
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