Searles Nielsen Susan, Mueller Beth A, De Roos Anneclaire J, Checkoway Harvey
Fred Hutchinson Cancer Research Center, Public Health Sciences Division, Seattle, WA 98109-1024, USA.
Ann Epidemiol. 2008 Jan;18(1):58-64. doi: 10.1016/j.annepidem.2007.06.002.
To evaluate the feasibility of obtaining dried blood spots (DBS) from newborn screening archives for subjects in epidemiologic studies and using these specimens for genotyping, and to evaluate the potential for bias in their use.
We attempted to locate DBS at Washington State's archives for 230 participants in a previous case-control study of childhood cancer, who were born 1978-1990. We compared characteristics of children for whom we did and did not locate specimens and attempted genetic polymorphism analyses (11 polymorphisms, 82-480 bp amplicons).
We retrieved specimens for 203 (88%) children, including 199 (94%) born in months when a DBS catalog was available. Among the latter, the proportion with specimens located varied by birth place (e.g., hospital, home), maternal education, and prenatal smoking, but did not vary significantly by race/ethnicity. All genotyping assays were completed for all specimens, and among controls genotype distributions were in Hardy-Weinberg equilibrium and similar to previous reports.
Newborn screening archives have potential to provide specimens for epidemiologic studies conducting genotyping and perhaps other assays, but the possibility that reliance on these resources could bias risk estimates must be considered.
评估从新生儿筛查档案中获取干血斑（DBS）用于流行病学研究对象并将这些标本用于基因分型的可行性，以及评估使用这些标本时存在偏倚的可能性。
我们试图在华盛顿州的档案中查找230名曾参与儿童癌症病例对照研究的参与者的干血斑，这些参与者出生于1978年至1990年。我们比较了找到和未找到标本的儿童的特征，并尝试进行基因多态性分析（11种多态性，82 - 480 bp扩增子）。
我们为203名（88%）儿童找回了标本，其中199名（94%）出生于有干血斑目录的月份。在后者中，有标本的比例因出生地（如医院、家中）、母亲教育程度和产前吸烟情况而异，但在种族/民族方面没有显著差异。所有标本都完成了所有基因分型检测，在对照组中，基因型分布符合哈迪 - 温伯格平衡，且与先前报告相似。
新生儿筛查档案有潜力为进行基因分型及可能的其他检测的流行病学研究提供标本，但必须考虑依赖这些资源可能会使风险估计产生偏倚的可能性。
