Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles

Tully, Gillian; Bär, W.; Brinkmann, B.; Carracedo, Ángel; Gill, Peter; Morling, Niels; Parson, Walther; Schneider, P. M.

doi:10.1016/s0379-0738(01)00573-4

Cited by 143 publications

(87 citation statements)

References 37 publications

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“…The heteroplasmy in hairs containing at least 20% of the minor variant could be detected by sequencing as well as by DGGE (Table 1). This percentage is in good agreement with previous studies (24). At levels of below 20% of heteroplasmy in DGGE, in most cases, no band corresponding to a minor sequence could be detected or the minor sequence was not distinguished from the noise peak in sequence method.…”

Section: Discussionsupporting

confidence: 92%

“…The position was confirmed by sequencing both strands (heavy strand and light strand of mtDNA). We classified the sample as having heteroplasmy only when the position was detected as an apparent heteroplasmy in both strands in order to distinguish heteroplasmy from the noise of the electropherogram (24). According to this criterion, heteroplasmic positions of five samples could not be found by the usual sequencing method (indicated in Table 1 as parenthesized nucleotide).…”

Section: Resultsmentioning

confidence: 99%

“…Heteroplasmy probably exists in some hairs of all individuals but may be undetectable. The possibility of the detection of heteroplasmy depends on the detection techniques used, and heteroplasmy must be present at a level approaching 20% to be distinguished from the background for a mutation to be detected by sequencing (24). Because the DGGE assay is more sensitive in detecting heteroplasmy than sequencing, the ratio of heteroplasmy in hairs would be lower in the case where heteroplasmy was detected only by sequencing.…”

Section: Discussionmentioning

confidence: 99%

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Mitochondrial DNA Heteroplasmy Among Hairs from Single Individuals

Sekiguchi

Sato

Kasai

2004

Journal of Forensic Sciences

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A denaturing gradient gel electrophoresis (DGGE) assay was used to detect mitochondrial DNA (mtDNA) sequence heteroplasmy in 160 hairs from each of three individuals. The HV1 and HV2 heteroplasmic positions were then identified by sequencing. In several hairs, the heteroplasmic position was not evident by sequencing and dHPLC separation of the homoduplex/heteroduplex species was carried out with subsequent reamplification and sequencing to identify the site. The overall detection frequency of sequence heteroplasmy in these hairs was 5.8% (28/480) with DGGE and 4.4% (21/280) with sequencing. Sequence heteroplasmy of hair was observed even when the reference blood sample of the individual was homoplasmic. The heteroplasmic positions were not necessarily observed at sites where high rates of substitution have been reported. In two hairs, a complete single base change from the reference blood sample was observed with sequencing, while the heteroplasmic condition at that site in the hair was observed using DGGE. The DGGE results in such samples would serve as an aid in considering the possibility of match significance. In a forensic case, this situation would lead to the possibility of a failure to exclude rather than to be inconclusive. KEYWORDS:forensic science, DNA typing, mitochondrial DNA, hair DNA, heteroplasmy, denaturing gradient gel electrophoresis MtDNA analysis is a useful tool for the identification of old or degraded biological evidentiary samples and is also important in the forensic comparison of hair samples. Heteroplasmy, the presence of two or more types of mtDNA in a single individual, was first observed in humans in association with a mitochondrial disorder (1). However, heteroplasmy in mtDNA has been reported, not only in association with mitochondrial disorders, but in the non-coding control region as well. Heteroplasmy in the control region was initially not considered to be significant (2), but it now appears to be a more frequent phenomenon than had originally been thought (3-6). Inter-and intra-generational heteroplasmy has been reported and the proportion of heteroplasmy appears to vary among different family members (5,7,8). Intra-individual heteroplasmy has also been reported in several studies (9,10). Length heteroplasmy in the HV1 and HV2 region, near nucleotide positions 16189 and 309-315, was found among hairs within a single individual (11,12) and the mechanism involved in this length heteroplasmy has been investigated (13,14). Site heteroplasmy, at a single nucleotide position in the control region of mtDNA in hairs, has also been reported and its proportions varied among hairs within a single individual (5,15). The frequency of site heteroplasmy among hairs from an individual with a homoplasmic blood sample has also been reported (16,17). Hühne et al. reported that no heteroplasmy was detected in an analysis of 15 hairs from each of 10 individuals, whereas Grzybowski reported numerous heteroplasmic positions in an analysis of 2-6 hairs each from each of 13 individuals. Be...

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Section: Discussionsupporting

confidence: 92%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Mitochondrial DNA Heteroplasmy Among Hairs from Single Individuals

Sekiguchi

Sato

Kasai

2004

Journal of Forensic Sciences

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“…We used a``tagged primer'' for mtDNA ampliˆcation because this permits the DyePrimer method as well as the DyeTerminator method to be used for sequencing. We used diŠerent tags for a forward or reverse primer in order to conduct both forward and reverse strand sequencing reactions from a single PCR ampliˆcation 19,20) . Atˆrst, we think there was a signiˆcantly diŠerent result obtained from the DyePrimer method and the DyeTerminator method, but, in this study, the level of detection of heteroplasmy was similar for both methods in this position.…”

Section: Discussionmentioning

confidence: 99%

“…A 5 mL aliquot of the PCR product was run on a 2 Nusieve ME agarose gel in TAE buŠer and visualized by ethidium bromide staining to conˆrm the quality and quantity of the product. According to the recommendations of the DNA Commission of the International Society for Forensic Genetics (ISFG) 19) , the possibility of contamination was monitored by simultaneously extracting, purifying and amplifying reagent blanks and negative controls. No DNA was detectable from the reagent blanks or the negative controls as evidenced by electrophoresis on an agarose gel.…”

Section: Pcrmentioning

confidence: 99%

MtDNA Sequence Analysis Using Capillary Electrophoresis and Its Application to the Analysis of MtDNA in Hair.

Sekiguchi

Imaizumi

Matsuda

et al. 2003

Jpn. J. Sci. Tech. Iden.

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A procedure for the analysis of mitochondrial DNA (mtDNA) using capillary electrophoresis instead of former gel-based methods is described. The procedure requires less manual manipulation in terms of electrophoresis and, therefore, reduces the chance of either human-or gel-related failures. Thus, the method is suitable for performing mtDNA typing from limited amounts of forensic samples.We also performed mtDNA typing of hair samples using this method, and were successful in typing from both hair roots and hair shafts as well as saliva and nail samples. The amount of PCR product indicated that the amount of mtDNA in the tip side of the hair shaft was less than that in the root side. However, one hair sample showed equal amounts of PCR products in both the tip and the root side. For the analysis of a sample derived from an individual with heteroplasmic mtDNA, the proportions of heteroplasmy from the saliva and nail samples were diŠerent from those from hair samples. For analyses of hairs from the same individual, each region of the hair showed diŠerent proportions of heteroplasmy and the results indicated the possibility of the diŠerent sequences in the same hair sample. Therefore, mtDNA analysis of hair samples will require additional investigation of procedures for heteroplasmic mtDNA. These results strongly suggest that the application of the developed method for hair samples will require careful treatment of the samples and a rigorous analysis of the results.

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Single Nucleotide Polymorphism

Børsting

Pereira

Andersen

et al. 2014

Wiley Encyclopedia of Forensic Science

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Single nucleotide polymorphisms (SNPs) are the most frequent DNA sequence variations in the genome. They have been studied extensively in the last decade with various purposes in mind. In this chapter, we will discuss the advantages and disadvantages of using SNPs for human identification and briefly describe the methods that are preferred for SNP typing in forensic genetics. In addition, we will illustrate how SNPs can be used as investigative leads in the police investigation by discussing the use of ancestry informative markers and forensic DNA phenotyping. Modern DNA sequencing technologies (also called next‐generation sequencing or NGS ) have the potential to completely transform forensic genetic investigations as we know them today. Here, we will make a short introduction to NGS and explain how NGS may combine analysis of the traditional forensic genetic markers with analysis of SNPs. This will allow acquisition of more information from the sample materials and open up for new possibilities as well as new challenges.

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Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles

Cited by 143 publications

References 37 publications

Mitochondrial DNA Heteroplasmy Among Hairs from Single Individuals

Mitochondrial DNA Heteroplasmy Among Hairs from Single Individuals

MtDNA Sequence Analysis Using Capillary Electrophoresis and Its Application to the Analysis of MtDNA in Hair.

Single Nucleotide Polymorphism

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