Universität zu Köln

Parson, W., Gusmao, L., Hares, D. R., Irwin, J. A., Mayr, W. R., Morling, N., Pokorak, E., Prinz, M., Salas, A., Schneider, P. M. and Parsons, T. J. (2014). DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing. Forensic Sci. Int.-Genet., 13. S. 134 - 143. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Parson, W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Gusmao, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hares, D. R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Irwin, J. A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mayr, W. R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Morling, N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pokorak, E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Prinz, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Salas, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schneider, P. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Parsons, T. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-425147
DOI:	10.1016/j.fsigen.2014.07.010
Journal or Publication Title:	Forensic Sci. Int.-Genet.
Volume:	13
Page Range:	S. 134 - 143
Date:	2014
Publisher:	ELSEVIER IRELAND LTD
Place of Publication:	CLARE
ISSN:	1878-0326
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CONTROL REGION SEQUENCES; QUASI-MEDIAN NETWORKS; MTDNA CONTROL REGION; CONSISTENT TREATMENT; POPULATION-DATA; CHARACTER CONFLICTS; LENGTH VARIANTS; HETEROPLASMY; DATABASE; ORGANIZATION Multiple languages Genetics & Heredity; Medicine, Legal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/42514