Walker Susan, Janyakhantikul Somwang, Armour John A L
Institute of Genetics and School of Biology, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK.
Genomics. 2009 Jan;93(1):98-103. doi: 10.1016/j.ygeno.2008.09.004. Epub 2008 Oct 22.
Demonstrating an association between a polymorphism and a disease phenotype through case-control studies requires reliable large-scale genotyping, but accurate measurement of copy number variation has proven to be technically challenging. Here we build on our previous experience with Paralogue Ratio Tests (PRT) to develop PRT copy number determination at the CCL3L1/CCL4L1 copy number variant. A multiplex PRT assay based on four independent comparative PCRs results in a convenient, accurate and robust method of multiallelic copy number measurement suitable for use in large-scale case-control studies, which can unambiguously assign virtually all samples tested to discrete copy number classes.
通过病例对照研究证明多态性与疾病表型之间的关联需要可靠的大规模基因分型，但已证明准确测量拷贝数变异在技术上具有挑战性。在此，我们基于之前使用旁系同源比例测试（PRT）的经验，开发了用于确定CCL3L1/CCL4L1拷贝数变异处PRT拷贝数的方法。基于四个独立比较PCR的多重PRT分析产生了一种方便、准确且稳健的多等位基因拷贝数测量方法，适用于大规模病例对照研究，该方法可以明确地将几乎所有测试样本分配到离散的拷贝数类别。
