Application of mtDNA SNP analysis in forensic casework

Köhnemann, Stephan; Pfeiffer, Heidi

doi:10.1016/j.fsigen.2010.01.015

Cited by 35 publications

(23 citation statements)

References 14 publications

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“…As these hairs were analyzed in different batches, the small changes may be due to different batch analyses. A full or partial profile of 32 mtDNA SNPs [9,14] was found in all hair extracts with positive qPCR. The fast degradation at the start of the experiment, corresponding to the detectable mtDNA molecules in qPCR, agrees with the DNA stability Ct Log C0 Fig.…”

Section: First Studymentioning

confidence: 90%

qPCR and mtDNA SNP analysis of experimentally degraded hair samples and its application in forensic casework

Köhnemann¹,

Pennekamp²,

Schmidt³

et al. 2010

Int J Legal Med

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A mitochondrial DNA (mtDNA) quantification PCR (qPCR) method was developed and applied in a study with experimentally degraded hair samples (first study) and in a criminal case (second study). In the first study, the amount of detectable mtDNA decreased drastically after an incubation time of 1 month on a moist tissue in a heating cabin at 37 degrees C. In the second study, when the qPCR assay showed positive quantification results, further analysis of 32 mtDNA single-nucleotide polymorphisms (SNPs) via SNaPshot technique was always possible, indicating that successful mtDNA SNP analysis of forensic samples can be guaranteed by pre-screening samples with the qPCR described here.

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Section: First Studymentioning

confidence: 90%

qPCR and mtDNA SNP analysis of experimentally degraded hair samples and its application in forensic casework

Köhnemann¹,

Pennekamp²,

Schmidt³

et al. 2010

Int J Legal Med

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“…Analysis of mitochondrial DNA (mtDNA) has become a routine technique in many laboratories involved in forensic testing and kinship analysis especially when nuclear DNA (nDNA) is severely degraded or absent [3][4][5]. In its current practice, mtDNA typing typically involves Sanger sequencing of the control region, which contains considerable sequence variation [3,[6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

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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“…However, it has become a powerful tool for the analysis of highly degraded samples or samples containing too little or no nuclear DNA, such as old bones and hair shafts 1,2,3 . Moreover, it can be of great value for the identification of missing persons when comparisons between maternal relatives are necessary.…”

Section: Introductionmentioning

confidence: 99%

Application of a panel of 14 D-loop mtDNA SNPs for the screening of highly degraded specimens in missing persons cases.

Chemale¹

2015

BJFS

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Abstract. In order to validate the application of a previously published panel of 14 highly discriminatory control region mtDNA SNPs typed using SNaPShot TM (Life Technologies), the assay was applied to identify maternal relationships in ten missing person cases. Bone samples from unidentified skeletal remains present in mortuaries were cleaned and ground in a cryogenic mill. DNA was extracted using the DNA IQ ® (Promega) and Prepfiler

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Application of mtDNA SNP analysis in forensic casework

Cited by 35 publications

References 14 publications

qPCR and mtDNA SNP analysis of experimentally degraded hair samples and its application in forensic casework

qPCR and mtDNA SNP analysis of experimentally degraded hair samples and its application in forensic casework

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

Application of a panel of 14 D-loop mtDNA SNPs for the screening of highly degraded specimens in missing persons cases.

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