Integration of DNA sample collection into a multi-site birth defects case-control study
Integration of DNA sample collection into a multi-site birth defects case-control study
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DOI：
10.1002/tera.10086
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发表时间：
2002-10-01
期刊：
影响因子：
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通讯作者：
Murray, JC
中科院分区：
文献类型：
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作者：
Rasmussen, SA;Lammer, EJ;Murray, JC
背景：定量分析和分子基因分型的进步为流行病学研究增加生物采样和遗传信息提供了前所未有的机会。本文的目的是描述将DNA样本采集纳入国家出生缺陷预防研究(NBDPS)，这是一个由8个州组成的联合体正在进行的病例对照研究，主要目的是确定出生缺陷的危险因素。方法：通过8个参与中心的出生缺陷监测系统识别出生缺陷婴儿。病例是指有30多个主要出生缺陷中的一个或多个的婴儿。对照是来自相同地理区域的没有缺陷的婴儿，流行病学信息是通过对病例和对照的母亲进行长达一小时的访谈来收集的。本研究增加了病例婴儿、对照婴儿及其父母的口腔细胞刷DNA样本的采集。结果：描述了样本的采集和处理方法，建立了集中的DNA库资源，以及质量控制、数据库管理、访问、知情同意和保密问题。结论：生物采样和基因分析是出生缺陷流行病学研究的重要组成部分，旨在识别危险因素。这项研究中收集的DNA样本可用于检测突变、研究赋予致畸剂不同易感性的多态变异，以及检查遗传风险因素之间的相互作用。关于NBDPS使用的方法和面临的问题的信息可能对其他考虑将DNA采样添加到流行病学研究中的人有价值。2002年出版，Wiley-Liss，Inc.(Dagger)。
Background: Advances in quantitative analysis and molecular genotyping have provided unprecedented opportunities to add biological sampling and genetic information to epidemiologic studies. The purpose of this article is to describe the incorporation of DNA sample collection into the National Birth Defects Prevention Study (NBDPS), an ongoing case-control study in an eight-state consortium with a primary goal to identify risk factors for birth defects.Methods: Babies with birth defects are identified through birth defects surveillance systems in the eight participating centers. Cases are infants with one or more of over 30 major birth defects. Controls are infants without defects from the same geographic area, Epidemiologic information is collected through an hour-long interview with mothers of both cases and controls. We added the collection of buccal cytobrush DNA samples for case-infants, control-infants, and their parents to this study.Results: We describe here the methods by which the samples have been collected and processed, establishment of a centralized resource for DNA banking, and quality control, database management, access, informed consent, and confidentiality issues.Conclusions: Biological sampling and genetic analyses are important components to epidemiologic studies of birth defects aimed at identifying risk factors. The DNA specimens collected in this study can be used for detection of mutations, study of polymorphic variants that confer differential susceptibility to teratogens, and examination of interactions among genetic risk factors. Information on the methods used and issues faced by the NBDPS may be of value to others considering the addition of DNA sampling to epidemiologic studies. Published 2002 Wiley-Liss, Inc.(dagger).