Neonatal screening by DNA microarray: spots and chips

被引：42

作者：

Green, NS

Pass, KA

机构：

[1] March Dimes Birth Defect Fdn, White Plains, NY 10605 USA

[2] Montefiore Med Ctr, Albert Einstein Coll Med, Dept Pediat, Bronx, NY 10467 USA

[3] Albert Einstein Coll Med, Dept Cell Biol, Bronx, NY 10467 USA

[4] New York State Dept Hlth, Wadsworth Ctr Labs & Res, Biggs Lab, Albany, NY 12201 USA

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 02期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nrg1526

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Newborn screening (NBS) is a public-health genetic screening programme aimed at early detection and treatment of pre-symptomatic children affected by specific disorders. It currently involves protein-based assays and PCR to confirm abnormal results. We propose that DNA microarray technology might be an improvement over protein assays in the first stage of NBS. This approach has important advantages, such as multiplex analysis, but also has disadvantages, which include a high initial cost and the analysis/storage of large data sets. Determining the optimal technology for NBS will require that technical, public health and ethical considerations are made for the collection and extent of analysis of paediatric genomic data, for privacy and for parental consent.

引用

页码：147 / 151

页数：6

共 36 条

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