Inspecting close maternal relatedness: Towards better mtDNA population samples in forensic databases

Martin Bodner, Jodi A. Irwin, Michael D. Coble, Walther Parson

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)138-141
Number of pages4
JournalForensic Science International: Genetics
Volume5
Issue number2
DOIs
StatePublished - 1 Mar 2011

Fingerprint

Mitochondrial DNA
Mothers
Databases
Population
Quality Control
Microsatellite Repeats
Human Migration
Medical Genetics
Pedigree
Genetic Markers
Gene Frequency
Haplotypes
Software
Mutation
Research

Keywords

  • Kinship analysis
  • Maternal relatedness
  • Population sampling
  • STR
  • mtDNA database
  • mtDNA quality control

Cite this

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title = "Inspecting close maternal relatedness: Towards better mtDNA population samples in forensic databases",
abstract = "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.",
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Inspecting close maternal relatedness : Towards better mtDNA population samples in forensic databases. / Bodner, Martin; Irwin, Jodi A.; Coble, Michael D.; Parson, Walther.

In: Forensic Science International: Genetics, Vol. 5, No. 2, 01.03.2011, p. 138-141.

Research output: Contribution to journalArticle

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