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首页> 外文期刊>Genetic testing and molecular biomarkers >Comparative Study of Three PCR-Based Copy Number Variant Approaches, CFMSA, M-PCR, and MLPA,in 22q11.2 Deletion Syndrome
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Comparative Study of Three PCR-Based Copy Number Variant Approaches, CFMSA, M-PCR, and MLPA,in 22q11.2 Deletion Syndrome

机译：比较研究的三个pcr拷贝数变异方法,CFMSA, M-PCR MLPA,22 q11.2缺失综合症

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摘要

Small submicroscopic DNA copy number variants represent an important source of variation in the human genome, human phenotypic diversity, and disease susceptibility. Consequently, there is a pressing need for the development of methods allowing the efficient, accurate, and cheap measurement of genomic copy number polymorphisms in clinical cohorts. The PCR-based strategies, being cost-effective and sensitive, are considered important in the development of screening techniques. PCR-based techniques such as multiplex PCR; multiplex ligation-dependent probe amplification; and a new single-tube assay technique, the competitive fluorescent multiplex STRP assay, have been applied to 22811.2 detection, a typical example of deletion syndromes. In this study, we compared the reliability and application of these three techniques in a cohort of 17 patients affected with 22q11.2 deletion and 300 normal controls. All three techniques shared 100% sensitivity; however, the competitive fluorescent multiplex STRP assay had the lowest possibility of concurrent false-positive signals from two adjoining probes in a genomic region. Moreover, it is a relatively fast and low-cost procedure to detect the deletion of 22q11.2 in numerous patients with several minor symptoms of deletion syndromes. Multiplex PCR, a rapidly developing and cheap technique, allows detection of atypical deletions.
机译：小亚微观的DNA拷贝数变异代表一个变异的重要来源人类基因组,人类表型多样性疾病的易感性。迫切需要发展的方法允许高效、准确、便宜基因组拷贝数测量多态性在临床的淋漓尽致。有成本效益的和敏感,被认为是重要的发展筛选技术。多重PCR;探测器放大;技术,竞争荧光多路复用STRP试验,已应用于22811.2检测,删除的一个典型的例子综合症。这三个的可靠性和应用技术在一群17个病人的影响22 q11.2删除和300名正常对照。所有三个技术共享100%的敏感性;然而,竞争荧光多路复用STRP化验的可能性最低从两个并发假阳性信号毗邻的探测器在基因组区域。这是一个相对快速和低成本的过程检测22 q11.2大量的删除几个小患者症状的删除综合症。和廉价的技术,允许检测的典型删除。

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