通过聚合酶链式反应（PCR）产生的大CAG/CTG重复模板，对采用直接法克隆具有CAG/CTG重复扩增的基因的有用性。
Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions.
作者信息
Pujana M A, Volpini V, Estivill X
机构信息
Molecular Genetics Department, Medical and Molecular Genetics Center, IRO, Autovía de Castelldefels km 2.7, 08907, L'Hospitalet de Llobregat, Barcelona, Spain.
出版信息
Nucleic Acids Res. 1998 Mar 1;26(5):1352-3. doi: 10.1093/nar/26.5.1352.
Abstract
We report here a simple method for generating large CAG/CTG repeat sequences. We have applied this method to clone the genomic sequence containing the CAG/CTG repeat and its upstream intronic sequence present in spinocerebellar ataxia type 3 or Machado-Joseph disease (SCA3/MJD) by a modified DIRECT method. With these modifications we have considerably simplified the generation of the repeat probe used to screen for anomalous bands. This method will facilitate the molecular approach to other genetic disorders where expansions of repeat sequences could be involved.
摘要
我们在此报告一种生成大型CAG/CTG重复序列的简单方法。我们已应用此方法，通过改良的DIRECT法克隆包含CAG/CTG重复序列及其上游内含子序列的基因组序列，该序列存在于3型脊髓小脑共济失调或马查多-约瑟夫病（SCA3/MJD）中。通过这些改良，我们大大简化了用于筛选异常条带的重复探针的生成。该方法将有助于对可能涉及重复序列扩增的其他遗传疾病进行分子研究。
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