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.
DOI of Published Version
Nat Methods. 2008 Nov;5(11):951-3. Epub 2008 Oct 19. Link to article on publisher's site
Liu W, Kennington LA, Rosas HD, Hersch SM, Cha J, Zamore PD, Aronin N. (2008). Linking SNPs to CAG repeat length in Huntington's disease patients. Open Access Publications by UMMS Authors. https://doi.org/10.1038/nmeth.1261. Retrieved from https://escholarship.umassmed.edu/oapubs/1978