Linking SNPs to CAG repeat length in Huntington's disease patients.
basic_science · Level V
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- Record sourced from PubMed, PMID 18931668.
- Also identified by DOI 10.1038/nmeth.1261 and PMC identifier 2587014.
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Abstract
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.
Medical subject headings
- Huntington Disease
- Polymorphism, Single Nucleotide
- Trinucleotide Repeats