Evaluation of mailed pediatric buccal cytobrushes for use in a case‐control study of birth defects

摘要: BACKGROUND: Buccal cell collection is a convenient DNA method; however, little attention has been given to the quality of obtained from pediatric populations. The purpose this study was determine effect modified cytobrush method on yield and infant buccal collected as part population-based case-control birth defects. METHODS Cytobrushes were infants, mothers, fathers using standard in 1997 2003 protocol that allows air-drying cytobrushes after present. Yield 1057 assessed by quantitative PCR short tandem repeat (STR) genotyping, respectively. RESULTS Air-dried infants had higher median yields (1300 ng) STR completion rates (99.5%) than (60 ng 59.5%, respectively). A subset aliquots genotyped for six single nucleotide polymorphisms (SNPs). Aliquots both methods passed (DNA concentration >1 ng/μl, successful amplification ≥1 STR) high genotype (99–100%). following whole genome more twofold air-dried specimens (p < 0.001). CONCLUSION are improved incorporates air-drying; suitable genotyping if stringent control procedures instituted. These findings may be helpful future epidemiologic studies defects other adverse outcomes. Birth Defects Research (Part A) 2011. © 2011 Wiley-Liss, Inc.