Detection of triplet repeat expansion in the human genome by use of hybridization signal intensity |
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Authors: | Sawada K Doyu M Tanaka F Sobue G Kato K |
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Institution: | Taisho Laboratory of Functional Genomics, Nara Institute of Science and Technology, Nagoya, Japan. ksawada@tsuru.med.nagoya-u.ac.jp |
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Abstract: | Triplet repeat disease is a group of hereditary neurodegenerative disorders caused by expansion of trinucleotide repeats such as CAG/CTG, CGG/CCG, and GAA/TTC. Direct detection of the expansion in the patient's genome shortcuts the tedious process needed for identification of disease genes by conventional approaches. Here we describe a method to detect triplet repeat expansion from the hybridization signal intensity. Using a digoxigenin-labeled (CTG)9 probe, the hybridization intensity and number of repeats showed a good linear correlation. The technique detected expansion in genomic DNA in all cases with moderate or large expansion. Even in the case of a small expansion, this method could detect the mutant fragment. The technique has advantages over related techniques because it is more sensitive and can be applied to cases where a small repeat expansion is involved. |
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