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- W2017605746 abstract "Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with expansions of an unstable CAG trinucleotide repeat in exon 1 of the IT15 gene. In normal individuals, IT15 contains up to 35 CAG repeats, while in affected the repeat length is >36. Polymerase chain reaction (PCR) is used to estimate the number of CAG repeats but may be inefficient in long repeats because of the high C+G content of the HD locus. We present a novel PCR approach for the diagnosis of HD, which permits direct visualization of the amplified products on agarose gel, using ethidium bromide. It is based on the methylation-sensitive conversion of C residues to U by bisulfite treatment of single-stranded DNA and subsequent amplification of the sense strand with specific primers. The bisulfite treatment dramatically reduces the C+G content of the region; thus, the high Tm and stable secondary structures are no longer obstacles to PCR. In both normal and affected individuals, UAG repeats (5′-CAG-3′, before bisulfite treatment) in the sense strand can easily be amplified and visualized on a gel by ethidium bromide staining. The method has considerable advantages compared with other described PCR-based diagnostic tests for HD. Hum Mutat 13:232–236, 1999. © 1999 Wiley-Liss, Inc." @default.
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- W2017605746 title "A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion" @default.
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- W2017605746 doi "https://doi.org/10.1002/(sici)1098-1004(1999)13:3<232::aid-humu7>3.0.co;2-n" @default.
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