Genomics in premature infants: a non-invasive strategy to obtain high-quality DNA

Abstract

We used a cost-effective, non-invasive method to obtain high-quality DNA from buccal epithelial-cells (BEC) of premature infants for genomic analysis. DNAs from BEC were obtained from premature infants with gestational age ≤ 36 weeks. Short terminal repeats (STRs) were performed simultaneously on DNA obtained from the buccal swabs and blood from the same patient. The STR profiles demonstrated that the samples originated from the same individual and exclude any contamination by external DNAs. Whole exome sequencing was performed on DNAs obtained from BEC on premature infants with and without necrotizing enterocolitis, and successfully provided a total number of reads and variants corroborating with those obtained from healthy blood donors. We provide a proof of concept that BEC is a reliable and preferable source of DNA for high-throughput sequencing in premature infants.

Figure 1. Electropherogram of four STR loci.

The electropherogram of STRs were obtained from the amplification of WB (A) and BEC (B) samples. Across the profile two or less alleles are present at each locus and peak height ratio, between sister alleles at heterozygous loci, is within the expected rage indicating that both are single source samples (i.e. absence of contamination). The two profiles are an exact match demonstrating that the samples originated from the same individual.