Linking SNPs to CAG repeat length in Huntington's disease patients
Department of Medicine, Division of Endocrinology and Metabolism; Department of Biochemistry and Molecular Pharmacology
Humans; Huntington Disease; Molecular Sequence Data; Polymorphism, Single Nucleotide; Trinucleotide Repeats
Life Sciences | Medicine and Health Sciences
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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Citation: Nat Methods. 2008 Nov;5(11):951-3. Epub 2008 Oct 19. Link to article on publisher's site