Title |
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
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Published in |
Molecular Neurodegeneration, April 2013
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DOI | 10.1186/1750-1326-8-12 |
Pubmed ID | |
Authors |
Vladimir L Buchman, Johnathan Cooper-Knock, Natalie Connor-Robson, Adrian Higginbottom, Janine Kirby, Olga D Razinskaya, Natalia Ninkina, Pamela J Shaw |
Abstract |
Sizing of GGGGCC hexanucleotide repeat expansions within the C9ORF72 locus, which account for approximately 10% of all amyotrophic lateral sclerosis (ALS) cases, is urgently required to answer fundamental questions about mechanisms of pathogenesis in this important genetic variant. Currently employed PCR protocols are limited to discrimination between the presence and absence of a modified allele with more than 30 copies of the repeat, while Southern hybridisation-based methods are confounded by the somatic heterogeneity commonly present in blood samples, which might cause false-negative or ambiguous results. |
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United Kingdom | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
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United States | 1 | 1% |
Canada | 1 | 1% |
Austria | 1 | 1% |
Unknown | 97 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 21 | 21% |
Researcher | 18 | 18% |
Student > Bachelor | 12 | 12% |
Student > Master | 10 | 10% |
Student > Postgraduate | 6 | 6% |
Other | 18 | 18% |
Unknown | 15 | 15% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 19 | 19% |
Neuroscience | 18 | 18% |
Medicine and Dentistry | 13 | 13% |
Psychology | 2 | 2% |
Other | 4 | 4% |
Unknown | 19 | 19% |