Single core genome sequencing for detection of both Borrelia burgdorferi Sensu Lato and relapsing fever Borrelia species

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dc.contributor.author Lee, Sin Hang
dc.contributor.author Healy, John Eoin
dc.contributor.author Lambert, John S.
dc.date.accessioned 2019-10-29T05:36:54Z
dc.date.available 2019-10-29T05:36:54Z
dc.date.issued 2019-05-20
dc.identifier.citation Lee, S.H., Healy, J.E. and Lambert, J.S., 2019. Single Core Genome Sequencing for Detection of both Borrelia burgdorferi Sensu Lato and Relapsing Fever Borrelia Species. International journal of environmental research and public health, 16(10), 1779 (22 pp.) DOI:10.3390/ijerph16101779 en
dc.identifier.volume 16 en
dc.identifier.issued 10 en
dc.identifier.startpage 1 en
dc.identifier.endpage 22 en
dc.identifier.issn 1661-7827
dc.identifier.uri http://hdl.handle.net/10468/8904
dc.identifier.doi 10.3390/ijerph16101779 en
dc.description.abstract Lyme disease, initially described as Lyme arthritis, was reported before nucleic-acid based detection technologies were available. The most widely used diagnostic tests for Lyme disease are based on the serologic detection of antibodies produced against antigens derived from a single strain of Borrelia burgdorferi. The poor diagnostic accuracy of serological tests early in the infection process has been noted most recently in the 2018 Report to Congress issued by the U.S. Department of Health and Human Services Tick-Borne Disease Working Group. Clinical Lyme disease may be caused by a diversity of borreliae, including those classified as relapsing fever species, in the United States and in Europe. It is widely accepted that antibiotic treatment of Lyme disease is most successful during this critical early stage of infection. While genomic sequencing is recognized as an irrefutable direct detection method for laboratory diagnosis of Lyme borreliosis, development of a molecular diagnostic tool for all clinical forms of borreliosis is challenging because a “core genome” shared by all pathogenic borreliae has not yet been identified. After a diligent search of the GenBank database, we identified two highly conserved segments of DNA sequence among the borrelial 16S rRNA genes. We further developed a pair of Borrelia genus-specific PCR primers for amplification of a segment of borrelial 16S rRNA gene as a “core genome” to be used as the template for routine Sanger sequencing-based metagenomic direct detection test. This study presented examples of base-calling DNA sequencing electropherograms routinely generated in a clinical diagnostic laboratory on DNA extracts of human blood specimens and ticks collected from human skin bites and from the environment. Since some of the tick samples tested were collected in Ireland, borrelial species or strains not known to exist in the United States were also detected by analysis of this 16S rRNA “core genome”. We recommend that hospital laboratories located in Lyme disease endemic areas begin to use a “core genome” sequencing test to routinely diagnose spirochetemia caused by various species of borreliae for timely management of patients at the early stage of infection. en
dc.format.mimetype application/pdf en
dc.language.iso en en
dc.publisher MDPI en
dc.relation.uri https://www.mdpi.com/1660-4601/16/10/1779
dc.rights © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license en
dc.rights.uri https://creativecommons.org/licenses/by/4.0/ en
dc.subject Lyme disease en
dc.subject Core genome en
dc.subject DNA sequencing en
dc.subject Borreliosis en
dc.subject Relapsing fever borreliae en
dc.subject Metagenomic diagnosis en
dc.subject Borrelia en
dc.subject Genus-specific PCR primers en
dc.subject Second PCR en
dc.subject Direct detection en
dc.subject Sanger sequencing en
dc.title Single core genome sequencing for detection of both Borrelia burgdorferi Sensu Lato and relapsing fever Borrelia species en
dc.type Article (peer-reviewed) en
dc.internal.authorcontactother John Healy, School of Biological, Earth and Environmental Sciences, University College Cork, Cork, Ireland. +353-21-490-3000 Email: e.healy@cs.ucc.ie en
dc.internal.availability Full text available en
dc.description.version Published Version en
dc.description.status Peer reviewed en
dc.identifier.journaltitle International journal of environmental research and public health en
dc.internal.IRISemailaddress e.healy@cs.ucc.ie en
dc.identifier.articleid 1779 en
dc.identifier.eissn 1660-4601


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© 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license Except where otherwise noted, this item's license is described as © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license
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