将亨廷顿舞蹈症患者的单核苷酸多态性与CAG重复序列长度关联起来。
Linking SNPs to CAG repeat length in Huntington's disease patients.
作者信息
Liu Wanzhao, Kennington Lori A, Rosas H Diana, Hersch Steven, Cha Jang-Ho, Zamore Phillip D, Aronin Neil
机构信息
Department of Medicine, University of Massachusetts Medical School, 364 Plantation Street, Worcester, Massachusetts 01605, USA.
出版信息
Nat Methods. 2008 Nov;5(11):951-3. doi: 10.1038/nmeth.1261. Epub 2008 Oct 19.
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.
摘要
使用靶向杂合单核苷酸多态性（SNP）的小干扰RNA进行等位基因特异性沉默，是治疗诸如亨廷顿舞蹈症等人类三核苷酸重复疾病的一种很有前景的疗法。将SNP身份与亨廷顿蛋白（HTT）的两个等位基因（正常和致病）相联系，是等位基因特异性RNA干扰的前提条件。在此，我们描述了一种名为环化SNP连锁（SLiC）的方法，该方法利用亨廷顿舞蹈症患者的外周血样本，来确定杂合SNP的CAG重复长度与核苷酸身份之间的连锁关系。
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