TY - JOUR
T1 - Inspecting close maternal relatedness
T2 - Towards better mtDNA population samples in forensic databases
AU - Bodner, Martin
AU - Irwin, Jodi A.
AU - Coble, Michael D.
AU - Parson, Walther
N1 - Funding Information:
The authors are grateful to Alexander Röck (Institute of Mathematics, University of Innsbruck), Burkhard Berger and Harald Niederstätter for valuable discussion, and to Daniela Niederwieser (all: Institute of Legal Medicine, Innsbruck Medical University) for excellent technical assistance. We also thank Melissa Scheible and Kimberly Sturk (Armed Forces DNA Identification Laboratory) for constructive input, along with the reviewers for their helpful comments. This work was supported by the Austrian Science Fund (FWF), Translational Research Program (project L397).
PY - 2011/3
Y1 - 2011/3
N2 - Reliable data are crucial for all research fields applying mitochondrial DNA (mtDNA) as a genetic marker. Quality control measures have been introduced to ensure the highest standards in sequence data generation, validation and a posteriori inspection. A phylogenetic alignment strategy has been widely accepted as a prerequisite for data comparability and database searches, for forensic applications, for reconstructions of human migrations and for correct interpretation of mtDNA mutations in medical genetics. There is continuing effort to enhance the number of worldwide population samples in order to contribute to a better understanding of human mtDNA variation. This has often lead to the analysis of convenience samples collected for other purposes, which might not meet the quality requirement of random sampling for mtDNA data sets. Here, we introduce an additional quality control means that deals with one aspect of this limitation: by combining autosomal short tandem repeat (STR) marker with mtDNA information, it helps to avoid the bias introduced by related individuals included in the same (small) sample. By STR analysis of individuals sharing their mitochondrial haplotype, pedigree construction and subsequent software-assisted calculation of likelihood ratios based on the allele frequencies found in the population, closely maternally related individuals can be identified and excluded. We also discuss scenarios that allow related individuals in the same set. An ideal population sample would be representative for its population: this new approach represents another contribution towards this goal.
AB - Reliable data are crucial for all research fields applying mitochondrial DNA (mtDNA) as a genetic marker. Quality control measures have been introduced to ensure the highest standards in sequence data generation, validation and a posteriori inspection. A phylogenetic alignment strategy has been widely accepted as a prerequisite for data comparability and database searches, for forensic applications, for reconstructions of human migrations and for correct interpretation of mtDNA mutations in medical genetics. There is continuing effort to enhance the number of worldwide population samples in order to contribute to a better understanding of human mtDNA variation. This has often lead to the analysis of convenience samples collected for other purposes, which might not meet the quality requirement of random sampling for mtDNA data sets. Here, we introduce an additional quality control means that deals with one aspect of this limitation: by combining autosomal short tandem repeat (STR) marker with mtDNA information, it helps to avoid the bias introduced by related individuals included in the same (small) sample. By STR analysis of individuals sharing their mitochondrial haplotype, pedigree construction and subsequent software-assisted calculation of likelihood ratios based on the allele frequencies found in the population, closely maternally related individuals can be identified and excluded. We also discuss scenarios that allow related individuals in the same set. An ideal population sample would be representative for its population: this new approach represents another contribution towards this goal.
KW - Kinship analysis
KW - Maternal relatedness
KW - Population sampling
KW - STR
KW - mtDNA database
KW - mtDNA quality control
UR - http://www.scopus.com/inward/record.url?scp=79952706392&partnerID=8YFLogxK
U2 - 10.1016/j.fsigen.2010.10.001
DO - 10.1016/j.fsigen.2010.10.001
M3 - Article
C2 - 21067986
AN - SCOPUS:79952706392
SN - 1872-4973
VL - 5
SP - 138
EP - 141
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
IS - 2
ER -