Profile of the Circulating DNA in apparently healthy individuals

Julia Beck, Howard B. Urnovitz, Joachim Riggert, Mario Clerici, Ekkehard Schütz

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

Background: Circulating nucleic acids (CNAs) have been shown to have diagnostic utility in human diseases. The aim of this study was to sequence and organize CNAs to document typical profiles of circulating DNA in apparently healthy individuals. methods: Serum DNA from 51 apparently healthy humans was extracted, amplified, sequenced via pyrosequencing (454 Life Sciences/Roche Diagnostics), and categorized by (a) origin (human vs xenogeneic), (b) functionality (repeats, genes, coding or noncoding), and (c) chromosomal localization. CNA results were compared with genomic DNA controls (n = 4) that were subjected to the identical procedure. results: We obtained 4.5 × 105 sequences (7.5 × 107 nucleotides), of which 87% were attributable to known database sequences. Of these sequences, 97% were genomic, and 3% were xenogeneic. CNAs and genomic DNA did not differ with respect to sequences attributable to repeats, genes, RNA, and protein-coding DNA sequences. CNA tended to have a higher proportion of short interspersed nuclear element sequences (P = 0.1), of which Alu sequences were significant (P <0.01). CNAs had a significantly lower proportion of L1 and L2 long interspersed nuclear element sequences (P <0.01). In addition, hepatitis B virus (HBV) genotype F sequences were found in an individual accidentally evaluated as a healthy control. conclusions: Comparison of CNAs with genomic DNA suggests that nonspecific DNA release is not the sole origin for CNAs. The CNA profiling of healthy individuals we have described, together with the detailed biometric analysis, provides the basis for future studies of patients with specific diseases. Furthermore, the detection of previously unknown HBV infection suggests the capability of this methodtouncover occult infections.

Original languageEnglish
Pages (from-to)730-738
Number of pages9
JournalClinical Chemistry
Volume55
Issue number4
DOIs
Publication statusPublished - Apr 1 2009

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Nucleic Acids
DNA
Viruses
Hepatitis B virus
Genes
Biological Science Disciplines
DNA sequences
Virus Diseases
Biometrics
Nucleotides
Genotype
Databases
RNA
Infection
Serum

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Profile of the Circulating DNA in apparently healthy individuals. / Beck, Julia; Urnovitz, Howard B.; Riggert, Joachim; Clerici, Mario; Schütz, Ekkehard.

In: Clinical Chemistry, Vol. 55, No. 4, 01.04.2009, p. 730-738.

Research output: Contribution to journalArticle

Beck, Julia ; Urnovitz, Howard B. ; Riggert, Joachim ; Clerici, Mario ; Schütz, Ekkehard. / Profile of the Circulating DNA in apparently healthy individuals. In: Clinical Chemistry. 2009 ; Vol. 55, No. 4. pp. 730-738.
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