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基于微阵列的诊断测试的临床应用。

Clinical applications of microarray-based diagnostic tests.

作者信息

Wu Lin, Williams P Mickey, Koch Walter H

机构信息

Roche Molecular Diagnostics, Pleasanton, CA 94588, USA.

出版信息

Biotechniques. 2005 Oct;39(4):577-82.

PMID:16235572
Abstract

Nearly 15 years have passed since the possibility of analyzing nucleic acid analytes in a massively parallel fashion was proposed using the then new concept of microarrays. A decade ago, proof of principle demonstration projects established the use of high density microarrays to genotype multiple polymorphisms within a large gene [cystic fibrosis transmembrance regulator (CFTR)], to rapidly analyze DNA sequences by hybridization and to ascertain differential gene expression of the entire genome of an organism. The use of microarrays has had an explosive influence on the rate at which new biological information can be learned, including in a nonhypothesis driven manner. The past decade has also seen these research tools applied increasingly to questions of clinical and medical relevance. Genotyping drug metabolizing enzyme genes, resequencing important tumor suppressor genes, and classifying neoplastic disease by differential gene expression profiles are but a few of the many possibilities to provide clinically useful information using microarray-based diagnostic tests.

摘要

自从利用当时微阵列这个新概念提出以大规模平行方式分析核酸分析物的可能性以来,近15年已经过去了。十年前,原理验证示范项目确立了使用高密度微阵列对一个大基因[囊性纤维化跨膜调节因子(CFTR)]内的多个多态性进行基因分型、通过杂交快速分析DNA序列以及确定生物体整个基因组的差异基因表达。微阵列的使用对获取新生物信息的速度产生了爆炸性影响,包括以非假设驱动的方式。在过去十年中,这些研究工具也越来越多地应用于临床和医学相关问题。对药物代谢酶基因进行基因分型、对重要肿瘤抑制基因进行重测序以及通过差异基因表达谱对肿瘤疾病进行分类,只是使用基于微阵列的诊断测试提供临床有用信息的众多可能性中的几个例子。

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