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

Carracedo, Ángel; Bär, W.; Lincoln, P. J.; Mayr, Wolfgang R.; Morling, Niels; Olaisen, B; Schneider, P. M.; Budowle, Bruce; Brinkmann, B.; Gill, Peter; Holland, Mitchell M.; Tully, Gillian; Wilson, Mark

doi:10.1016/s0379-0738(00)00161-4

Cited by 268 publications

(130 citation statements)

References 19 publications

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“…Mutations are referred to the revised Cambridge Reference Sequence (rCRS) (Andrews et al 1999). We followed a standardized forensic framework for nomenclature, as indicated in Carracedo et al (2000) but with slight modifications considered in Salas et al (2005a) concerning insertions. Data were checked following the phylogenetic principles described previously (Bandelt 1994;Bandelt et al 2004a, b;) to avoid sequence artifacts as much as possible.…”

Section: Pcr Amplification and Sequencingmentioning

confidence: 99%

Gender bias in the multiethnic genetic composition of central Argentina

et al. 2008

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Section: Pcr Amplification and Sequencingmentioning

confidence: 99%

Gender bias in the multiethnic genetic composition of central Argentina

et al. 2008

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“…For instance, the deletion 248del was declared to be an ''unknown'' mutation by Carew et al (2003). Deletion of one A at positions 248-249, however, is normally scored as 249del, following the forensic convention for nomenclature of homopolymeric stretches (Carracedo et al 2000). Consequently, 249del is listed among the known control-region mutations in MITO-MAP.…”

Section: Misscored Mutationsmentioning

confidence: 99%

What is a ‘novel’ mtDNA mutation – and does ‘novelty’ really matter?

2006

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The hunt for pathogenic mitochondrial DNA (mtDNA) mutations is often fueled by the seeming novelty of mutations that are either nonsynonymous or affect the protein synthesis machinery in patients. In order to determine the novelty of a detected mutation, the working geneticist nearly always consults MITOMAP -often exclusively. By reanalyzing some case studies of refractory anemia with ring sideroblasts, prostate cancer, and hearing impairment, we demonstrate that the practice of solely relying on MITOMAP can be most misleading. A notorious example is the T1243C mutation, which was assessed to be novel and deemed to be associated with some (rare) disease simply because researchers did not realize that T1243C defines a deep branch in the Eurasian mtDNA phylogeny. The majority of 'novel' mutations suspected of being pathogenic are in actual fact known (and presumably neutral) polymorphisms (although unknown to MITOMAP), and this becomes glaringly evident when proper database searches and straightforward Internet queries are carried out.

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“…Mitochondrial DNA (mtDNA) is most commonly used in species identification and attracts researchers because of its compact size, high copy number per cell, maternal inheritance, absence of introns and pseudogenes and fast evolutionary rate [35][36][37][38]. Cyt b, cytochrome oxidase I (COI), two ribosomal RNA (12S rRNA and 16S rRNA), the control region (D-loop) and subunits of mitochondrial encoded NADH dehydrogenase gene are the widely deployed mitochondrial gene for species identification in wildlife forensic [39].…”

Section: Genetic Analysismentioning

confidence: 99%

A Pioneer Case Study on Identification of Infant Rhinoceros Horn

Jha¹,

Gupta²,

Kshetry³

et al. 2017

J Forensic Res

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Objective: To investigate the authenticity of infant Rhino horn sample from morphometric, microscopic, genetic and phylogenetic studies. Methods:A suspected rhino horn sample (11 cm × 13 cm) was sent to the laboratory for identification. Relevant morphometric data of sample were taken. Similarly, established methods for microscopic examination of rhino horn were adopted. Using standard universal primer, a part of Cytochrome b (Cyt b) and 12S rRNA was amplified from sample, sequenced and aligned using BLAST of the GenBank (NCBI) and in-house reference database available at Wildlife Institute of India, Dehradun, India for decisive confirmation of species.Results: Morphometric analysis showed the sample was oval, dome shaped with a bony part which was supported by upper skin. Presence of filamentous units is the microscopic identifying feature of genuine rhino horn. However, microscopic examination showed very unclear filamentous units because of the immature nature of sample. Mitochondrial sequence data revealed the source of suspected sample was of a one-horn Rhinoceros (Rhinoceros unicornis). Similarly, NJ method for phylogenetic analysis for both Cytb and 12S rRNA identified sequence similarity with Rhinoceros unicornis. Conclusion:Even though the morphometric and microscopic data do not reveal much about the infant rhino horn, mtDNA sequencing used in this pioneer study can be applied in the wildlife forensic for identification of such parts in future and data used as evidence against the poachers in the court of law.

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

Cited by 268 publications

References 19 publications

Gender bias in the multiethnic genetic composition of central Argentina

Gender bias in the multiethnic genetic composition of central Argentina

What is a ‘novel’ mtDNA mutation – and does ‘novelty’ really matter?

A Pioneer Case Study on Identification of Infant Rhinoceros Horn

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