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Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing

Research output: Contribution to journalArticle

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Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing. / Vidaki, Athina; Giangasparo, Federica ; Syndercombe Court, Denise.

In: Electrophoresis, Vol. 37, No. 21, 03.10.2016, p. 2767–2779.

Research output: Contribution to journalArticle

Harvard

Vidaki, A, Giangasparo, F & Syndercombe Court, D 2016, 'Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing', Electrophoresis, vol. 37, no. 21, pp. 2767–2779. https://doi.org/10.1002/elps.201600261

APA

Vidaki, A., Giangasparo, F., & Syndercombe Court, D. (2016). Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing. Electrophoresis, 37(21), 2767–2779. https://doi.org/10.1002/elps.201600261

Vancouver

Vidaki A, Giangasparo F, Syndercombe Court D. Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing. Electrophoresis. 2016 Oct 3;37(21):2767–2779. https://doi.org/10.1002/elps.201600261

Author

Vidaki, Athina ; Giangasparo, Federica ; Syndercombe Court, Denise. / Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing. In: Electrophoresis. 2016 ; Vol. 37, No. 21. pp. 2767–2779.

Bibtex Download

@article{fb1c6524c2c34dfc9246655501663128,
title = "Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing",
abstract = "The presence of specific body fluids at crime scenes could be linked with particular types of crime, therefore attributing a DNA profile to a specific tissue could increase the evidential significance of a match with a suspect. Current methodologies such as tissue-specific mRNA profiling are useful but drawbacks include low tissue specificity and applicability to degraded samples. In this study, the potential of 11 tissue-specific differentially methylated regions, initially identified following large-scale methylation analysis of whole blood, buccal cells and sperm, was explored in order to identify markers for blood, saliva and semen. Bisulphite pyrosequencing analysis supported previous findings, but tissue-specific differentially methylated regions for blood and buccal cells did not show enough specificity to be proposed as markers for blood and saliva, respectively. For some CpGs, a large inter-individual variation in methylation levels was also observed. Two of the semen markers (cg04382920 and cg11768416) were used for further validation on a large set of stains. These two semen-specific assays showed high sensitivity (as low as 50 pg) and stability. Future experiments will shed light on the usefulness of these markers in forensic casework.",
keywords = "Bisulphite pyrosequencing, DNA methylation, Forensic, Tissue identification",
author = "Athina Vidaki and Federica Giangasparo and {Syndercombe Court}, Denise",
year = "2016",
month = oct,
day = "3",
doi = "10.1002/elps.201600261",
language = "English",
volume = "37",
pages = "2767–2779",
journal = "Electrophoresis",
issn = "0173-0835",
number = "21",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Discovery of potential DNA methylation markers for forensic tissue identification using bisulphite pyrosequencing

AU - Vidaki, Athina

AU - Giangasparo, Federica

AU - Syndercombe Court, Denise

PY - 2016/10/3

Y1 - 2016/10/3

N2 - The presence of specific body fluids at crime scenes could be linked with particular types of crime, therefore attributing a DNA profile to a specific tissue could increase the evidential significance of a match with a suspect. Current methodologies such as tissue-specific mRNA profiling are useful but drawbacks include low tissue specificity and applicability to degraded samples. In this study, the potential of 11 tissue-specific differentially methylated regions, initially identified following large-scale methylation analysis of whole blood, buccal cells and sperm, was explored in order to identify markers for blood, saliva and semen. Bisulphite pyrosequencing analysis supported previous findings, but tissue-specific differentially methylated regions for blood and buccal cells did not show enough specificity to be proposed as markers for blood and saliva, respectively. For some CpGs, a large inter-individual variation in methylation levels was also observed. Two of the semen markers (cg04382920 and cg11768416) were used for further validation on a large set of stains. These two semen-specific assays showed high sensitivity (as low as 50 pg) and stability. Future experiments will shed light on the usefulness of these markers in forensic casework.

AB - The presence of specific body fluids at crime scenes could be linked with particular types of crime, therefore attributing a DNA profile to a specific tissue could increase the evidential significance of a match with a suspect. Current methodologies such as tissue-specific mRNA profiling are useful but drawbacks include low tissue specificity and applicability to degraded samples. In this study, the potential of 11 tissue-specific differentially methylated regions, initially identified following large-scale methylation analysis of whole blood, buccal cells and sperm, was explored in order to identify markers for blood, saliva and semen. Bisulphite pyrosequencing analysis supported previous findings, but tissue-specific differentially methylated regions for blood and buccal cells did not show enough specificity to be proposed as markers for blood and saliva, respectively. For some CpGs, a large inter-individual variation in methylation levels was also observed. Two of the semen markers (cg04382920 and cg11768416) were used for further validation on a large set of stains. These two semen-specific assays showed high sensitivity (as low as 50 pg) and stability. Future experiments will shed light on the usefulness of these markers in forensic casework.

KW - Bisulphite pyrosequencing

KW - DNA methylation

KW - Forensic

KW - Tissue identification

UR - http://www.scopus.com/inward/record.url?scp=84989271218&partnerID=8YFLogxK

U2 - 10.1002/elps.201600261

DO - 10.1002/elps.201600261

M3 - Article

AN - SCOPUS:84989271218

VL - 37

SP - 2767

EP - 2779

JO - Electrophoresis

JF - Electrophoresis

SN - 0173-0835

IS - 21

ER -

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