دورية أكاديمية
Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease
| العنوان: | Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease |
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| المؤلفون: | Muglia, M, Leone, O, Annesi, G, Gabriele, A L, Imbrogno, E, Grandinetti, C, Conforti, F L, Naso, F, Brancati, C |
| المصدر: | Clinical Chemistry ; volume 42, issue 10, page 1601-1603 ; ISSN 0009-9147 1530-8561 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Biochemistry (medical), Clinical Biochemistry |
| الوصف: | Huntington disease (HD) is a neurodegenerative disorder caused by an expanded trinucleotide repeat (CAG)n located at the 5' end of the novel IT15 gene. Discovery of this expansion allows the molecular diagnosis of HD by measuring repeat length. We applied a simple nonisotopic method to detect (CAG)n repeats, avoiding both radioactive and Southern transfer analysis. The assay is based on direct visualization of electrophoresed PCR products, after silver nitrate gel staining. Its accurate sizing of HD alleles allows presymptomatic diagnosis of at-risk persons. By avoiding isotopic manipulations, the method is safe and accurate, with no radioactive background bands. Furthermore, because it permits direct allele visualization after gel staining, the method is simple and rapid, allowing allele sizing within hours rather than days. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/clinchem/42.10.1601 |
| الإتاحة: | https://doi.org/10.1093/clinchem/42.10.1601Test http://academic.oup.com/clinchem/article-pdf/42/10/1601/32755346/clinchem1601.pdfTest |
| حقوق: | https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_modelTest |
| رقم الانضمام: | edsbas.29B0E7E |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/clinchem/42.10.1601 |
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