DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing

Parson, Walther; Gusmão, Leonor; Hares, Douglas R.; Irwin, Jodi A.; Mayr, Wolfgang R.; Morling, Niels; Pokorak, Eric G.; Prinz, Mechthild; Salas, Antonio; Schneider, Peter M.; Parsons, Thomas J.

doi:10.1016/j.fsigen.2014.07.010

Cited by 257 publications

(227 citation statements)

References 59 publications

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“…The mtSNP exercise was divided into two parts: part 1 consisted of laboratory analysis of 13 samples and one blank with the two mini-mtSNaPshot multiplexes and inference of the haplogroup and part 2 comprised a paper challenge comparing the mini-mtSNaPshot data of all 13 samples to a set of eight mtDNA reference profiles that were described according to standard nomenclature [2].…”

Section: Samples and Materials Providedmentioning

confidence: 99%

“…Next, a paper challenge was performed in which each mini-mtSNaPshot profile obtained in part 1 of the exercise was compared to eight reference mtDNA profiles described according to standard nomenclature [2]. This is an important step of the exercise as the mini-mtSNaPshot assay is regarded as a screening tool.…”

Section: Part Two -Paper Challengementioning

confidence: 99%

“…The majority of the participants proceeded to haplotype inference to assess the feasibility of assigning a haplogroup and checking phylogenetic consistency when only 18 SNPs are typed. To mimic casework procedures, the participants compared the SNP typing data of all 13 samples to a set of eight mtDNA reference profiles that were described according to standard nomenclature [2], and indicated whether these references matched each sample or not. Incorrect scorings were obtained for 2% of the comparisons and derived from a subset of the participants, indicating a need for training and guidelines regarding mini-mtSNaPshot data interpretation.…”

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confidence: 99%

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A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing

Weiler

Baca²,

Ballard

et al. 2017

Forensic Science International: Genetics

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A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess the performance of an earlier described SNaPshot™-based screening assay (denoted minimtSNaPshot) [1] that targets 18 single nucleotide polymorphism (SNP) positions in the mitochondrial (mt) DNA control region and allows for discrimination of major European mtDNA haplogroups. Besides the organising laboratory, 14 forensic genetics laboratories were involved in the analysis of 13 samples, which were centrally prepared and thoroughly tested prior to shipment. The samples had a variable complexity and comprised straightforward single-source samples, samples with dropout or altered peak sizing, a point heteroplasmy and twocomponent mixtures resulting in one to five bi-allelic calls. The overall success rate in obtaining useful results was high (97.6%) given that some of the participating laboratories had no previous experience with the typing technology and/or mtDNA analysis. The majority of the participants proceeded to haplotype inference to assess the feasibility of assigning a haplogroup and checking phylogenetic consistency when only 18 SNPs are typed. To mimic casework procedures, the participants compared the SNP typing data of all 13 samples to a set of eight mtDNA reference profiles that were described according to standard nomenclature [2], and indicated whether these references matched each sample or not. Incorrect scorings were obtained for 2% of the comparisons and derived from a subset of the participants, indicating a need for training and guidelines regarding mini-mtSNaPshot data interpretation.

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Section: Samples and Materials Providedmentioning

confidence: 99%

Section: Part Two -Paper Challengementioning

confidence: 99%

mentioning

confidence: 99%

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A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing

Weiler

Baca²,

Ballard

et al. 2017

Forensic Science International: Genetics

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“…Hence, observing different mtDNA haplotypes between reference and trace material Electronic supplementary material The online version of this article (doi:10.1007/s00414-014-1106-x) contains supplementary material, which is available to authorized users. in forensic casework may not suffice to exclude that they might have the same maternal origin [17][18][19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

“…Typically, mtDNA haplotypes are described as alpha-numeric codes displaying their differences relative to the Kim et al [35] reference sequence. It has been advised to use lower case letters to indicate LH sites in alphanumeric codes [22,39]. However, also because the detection of a minor variant depends on factors such as sequencing chemistry [40], it is a standard practice to only report the major haplotype, both in human [22,40] and dog [36][37][38] forensic population studies.…”

Section: Introductionmentioning

confidence: 99%

Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region

2014

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Previously, the mitochondrial control region of 214 Belgian dogs was sequenced. Analysis of this data indicated length heteroplasmy of the polyT stretch in the polyC-polyT-polyC stretch from positions 16661 to 16674. Nine polyC-polyT-polyC haplotype combinations were observed, consisting of seven major haplotypes (highest signal intensity) combined with minor haplotypes (lower signal intensity) one T shorter than the major haplotype in all but three dogs. The longer the polyT stretch, the smaller was the difference in signal intensity between the major and minor haplotype peaks. Additional sequencing, cloning, and PCR trap experiments were performed to further study the intra-individual variation of this mitochondrial DNA (mtDNA) region. Cloning experiments demonstrated that the proportion of clones displaying the minor haplotypes also increased with the length of the polyT stretch. Clone amplification showed that in vitro polymerase errors might contribute to the length heteroplasmy of polyT stretches with at least 10 Ts. Although major and minor polyC-polyT-polyC haplotypes did not differ intra-individually within and between tissues in this study, interpretation of polyT stretch variation should be handled with care in forensic casework.

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Forensic DNA Analysis

Prinz¹,

Lessig²

2022

Handbook of Forensic Medicine

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DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing

Cited by 257 publications

References 59 publications

A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing

A collaborative EDNAP exercise on SNaPshot™-based mtDNA control region typing

Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region

Forensic DNA Analysis

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