摘要
遗传代谢性疾病是一类由于单基因缺陷而引起代谢途径阻断的疾病。许多遗传代谢性疾病对新生儿危害极大,因此是新生儿筛查的主要内容。串联质谱用于新生儿筛查是自Guthrie将细菌抑制法用于苯丙酮尿症筛查以来,新生儿筛查史上最重要的技术革新。近年来,串联质谱已成为新生儿遗传代谢性疾病筛查中最具发展潜力的"朝阳"技术。本文介绍串联质谱在新生儿遗传代谢性疾病筛查中的技术优势、应用原理和筛查疾病种类,并分析该技术在此领域中的发展趋势。
Inherited metabolic diseases are a group of metabolic disorders caused by singe gene defect. Many of these diseases carry serious clinical consequences to neonate or infant and therefore are a major part of newborn screening. The application of tandem mass spectrometry is the most important renovation in the field besides the application of bacterial inhibition assay to the screening of phenylketonuria by Guthrie. Recently, tandem mass spectrometry has revolutionized the field with rapid progress in technology. This paper reviews the advantages, fundamentals and screening diseases of tandem mass spectrometry. Future of this technology in newborn screening for inherited metabolic diseases is also predicted.
出处
《质谱学报》
EI
CAS
CSCD
2011年第1期24-30,共7页
Journal of Chinese Mass Spectrometry Society
关键词
串联质谱
遗传代谢性疾病
新生儿筛查
tandem mass spectrometry
inherited metabolic diseases
newborn screening
