Maximize Quality and Quantity of DNA from Mailed Cytobrushes
As part of the mission to prevent birth defects, NCBDDD has established the National Birth Defects Prevention Study (NBDPS), a multi-site, population-based case-control study to identify potential genetic and environmental risk factors for birth defects. The study includes ascertainment of case and control infants, maternal interviews, and collection of DNA from cheek cells using cytobrushes mailed to each mother, father, and infant. To identify potential genetic risk factors, CDC and collaborating sites have collected buccal-derived DNA samples for 9,140 case-infants, 10,465 case-infant mothers, 8,703 case-infant fathers, 3,346 control-infants, 3,377 control-infant mothers, and 2,802 control-infant fathers. DNA is extracted from self-collected cytobrushes and stored for later analysis. One problem encountered in the NBDPS is that the extracted DNA is sometimes of insufficient quality and quantity for use with current whole genome amplification (WGA) methods. WGA is necessary for high-throughput genotyping of buccal-derived DNA samples. Other projects that include self-collection of buccal samples using cytobrushes may be experiencing the same problem with less than optimal quality and quantity DNA.
Phase I will use mailed cytobrush samples that are not part of the NBDPS.
1. Develop a WGA method that provides optimal DNA quantities from mailed cytobrush samples, both new and existing.
2. Identify a feasible, innovative technology that allows laboratories to extract DNA of optimal quantity and quality on new samples collected from buccal brushes.
The new technology will increase the number of DNA samples that are of useable quality and quantity for further analyses.
The new technology will allow maximum utilization of existing biologic samples, minimize the intrusion on study participants, and save funds in biologic sample recollection cost.

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