4.8 Article

Linking SNPs to CAG repeat length in Huntington's disease patients

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NATURE METHODS
卷 5, 期 11, 页码 951-953

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NATURE PUBLISHING GROUP
DOI: 10.1038/nmeth.1261

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  1. NIH Diabetes and Endocrinology Research [5P30DK32520-25]
  2. US National Institutes of Health [NS38194, 1P01NS058793]
  3. National Institute of Neurological Disorders and Stroke [NS042861]
  4. CHDI, Inc.

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Allele-specific silencing using small interfering RNAs targeting heterozygous single-nucleotide polymorphisms (SNPs) is a promising therapy for human trinucleotide repeat diseases such as Huntington's disease. Linking SNP identities to the two HTT alleles, normal and disease-causing, is a prerequisite for allele-specific RNA interference. Here we describe a method, SNP linkage by circularization (SLiC), to identify linkage between CAG repeat length and nucleotide identity of heterozygous SNPs using Huntington's disease patient peripheral blood samples.

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