纳米球Verigene系统及Verigene F5/F2/MTHFR核酸检测的评估

Evaluation of the Nanosphere Verigene System and the Verigene F5/F2/MTHFR Nucleic Acid Tests.

作者信息

Lefferts Joel A, Jannetto Paul, Tsongalis Gregory J

机构信息

Department of Pathology, Dartmouth Medical School, Dartmouth Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH 03756, USA.

出版信息

Exp Mol Pathol. 2009 Oct;87(2):105-8. doi: 10.1016/j.yexmp.2009.06.002. Epub 2009 Jun 30.

DOI:10.1016/j.yexmp.2009.06.002

PMID:19573527

Abstract

BACKGROUND

Our ability to detect single nucleotide polymorphisms (SNPs) and gene mutations has become commonplace in the clinical laboratory setting. Molecular genetic testing for gene variants associated with hypercoagulability has become a standard of practice for Factor V and Factor II polymorphisms.

METHODS

In this study, we evaluated a novel technology that allows for the routine assessment of these SNPs, the Verigene System (Nanosphere Inc, Northbrook, IL), as a low-density array that does not require PCR amplification prior to detection. Precision was assessed by using multiple operators for within and between run performance evaluations. Accuracy was assessed by evaluating 176 DNA samples from patients who had been previously tested for the SNPs of interest in this multicenter study.

RESULTS

No mis-calls were made during the precision studies. Testing of the 176 DNA samples resulted in individual call rates for the F5, F2 and MTHFR genotypes of 98.3%, 94.9%, and 92.6%, respectively.

CONCLUSIONS

The Verigene F5/F2/MTHFR Nucleic Acid Tests for the Factor V (1691G>A), Factor II (20210G>A) and MTHFR (677C>T) genes were robust methods for SNP detection without the need for DNA amplification. The ease of use and performance of this system makes it suitable for the clinical laboratory setting.

摘要

背景

在临床实验室环境中，我们检测单核苷酸多态性（SNP）和基因突变的能力已变得很常见。针对与高凝性相关的基因变异进行分子遗传学检测已成为因子V和因子II多态性的标准做法。

方法

在本研究中，我们评估了一种可对这些SNP进行常规评估的新技术——Verigene系统（Nanosphere公司，伊利诺伊州诺斯布鲁克），它是一种低密度阵列，在检测前无需进行PCR扩增。通过使用多名操作人员进行批内和批间性能评估来评估精密度。通过评估来自多中心研究中曾对感兴趣的SNP进行过检测的患者的176份DNA样本，来评估准确性。