Rüegg Christian, Hersberger Martin, Wusk Barbara, Rentsch Katharina, Kullak-Ublick Gerd A, von Eckardstein Arnold, Maly Friedrich E
Institute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.
Clin Chem Lab Med. 2004 May;42(5):494-8. doi: 10.1515/CCLM.2004.084.
Crohn's disease is a complex disorder, with multiple genetic traits. A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and Arg702Trp) in the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease. The presence of one of these risk alleles confers a 2- to 4-fold increase in the risk of developing Crohn's disease, and the presence of two mutant alleles increases the risk over 20-fold. To facilitate the analysis of these polymorphisms, we developed three LightCycler assays to detect the missense mutations Arg702Trp and Gly908Arg and the frameshift mutation Leu100fsinsC in the NOD2/ CARD15 gene. All three assays can be run simultaneously on one LightCycler using identical cycling parameters. Analysis of 53 DNAs from Crohn's patients helped to identify carriers at allele frequencies similar to other Caucasian populations. The sequencing of such DNAs confirmed the accuracy of the assays. In conclusion, we present three rapid and robust assays to detect the Arg702Trp, the Gly908Arg and the Leu1007fsinsC ins mutations in the NOD2/CARD15 gene [corrected]
克罗恩病是一种复杂的疾病，具有多种遗传特征。NOD2/CARD15基因中的一个移码突变（Leu1007fsinsC）和两个错义突变（Gly908Arg和Arg702Trp）与克罗恩病易感性密切相关。这些风险等位基因中的一个的存在会使患克罗恩病的风险增加2至4倍，而两个突变等位基因的存在会使风险增加20倍以上。为便于分析这些多态性，我们开发了三种LightCycler检测方法，以检测NOD2/CARD15基因中的错义突变Arg702Trp和Gly908Arg以及移码突变Leu100fsinsC。所有这三种检测方法都可以使用相同的循环参数在一台LightCycler上同时进行。对53例克罗恩病患者的DNA进行分析，有助于识别等位基因频率与其他白种人群相似的携带者。此类DNA的测序证实了检测方法的准确性。总之，我们提出了三种快速且可靠的检测方法，用于检测NOD2/CARD15基因中的Arg702Trp、Gly908Arg和Leu1007fsinsC插入突变[已修正]
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