Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

Quintáns, Beatriz; Álvarez-Iglesias, Vanesa; Salas, Antonio; Phillips, C.; Lareu, M.V.; Carracedo, Ángel

doi:10.1016/j.forsciint.2003.12.005

Cited by 164 publications

(149 citation statements)

References 21 publications

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“…differences in electrophoretic mobility mainly determined by the length, sequence and dye used to label the extended primers. In particular, the greatest shift was observed in shortest fragments; this could be attributed to the algorithm of the software used for analysis (Quintàns et al, 2004). We estimated that to assure correct differentiation of extended primer, amplicons must differ by at least seven nucleotides in length.…”

Section: Resultsmentioning

confidence: 99%

“…In particular the fluorescent dyes are assigned to the individual ddNTPs as follows: A(dR6G, green), C(dTAMRA, black), G(dR110, blue) and T(dROX, red). The extended SNaPshot primers used to interrogate different diagnosis site differ in color and size (the length of a primer being modified by the addition of poly-T tails at the 5 0 -end) (Quintàns et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

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Authentication of meat from game and domestic species by SNaPshot minisequencing analysis

Neve

Civera

Mucci³

et al. 2008

Meat Science

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The aim of the present study is to develop an assay for the specific identification of meat from Capreolus capreolus, Cervus elaphus, Capra ibex, Rupicapra rupicapra, targeting sequences of the cytochrome b (cyt b) gene of mitochondrial DNA. The assay is also intended to enable differentiation between meat from these wild species as well as Ovis aries, Capra hircus, Bubalus bubalis, Bos taurus and Sus scrofa domestic species.The primers used in the preliminary PCR were designed in well conserved regions upstream and downstream of the diagnosis sites. They successfully amplified a conserved 232 bp region from the cyt b gene of all the species taken into consideration. The sites of diagnosis have been interrogated using a minisequencing reaction and capillary electrophoresis. All the results of the multiplex PER (primer extension reaction) test were confirmed by fragment sequencing. The assay offers the possibility of discriminating nine species at the same time.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Authentication of meat from game and domestic species by SNaPshot minisequencing analysis

Neve

Civera

Mucci³

et al. 2008

Meat Science

View full text Add to dashboard Cite

show abstract

“…Polymerase chain reaction (PCR) amplification was performed with GeneAmp 9700 thermocyclers, and sequencing analysis was performed as previously described (Á lvarez-Iglesias et al 2007). All samples were additionally genotyped for a set of ten SNPs following (Quintáns et al 2004). Mutations are referred to the revised Cambridge Reference Sequence (rCRS) (Andrews et al 1999).…”

Section: Pcr Amplification and Sequencingmentioning

confidence: 99%

Gender bias in the multiethnic genetic composition of central Argentina

et al. 2008

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“…The primers were extended by adding a single fluorescently labeled ddNTP to its 3Ј-end. [22][23][24][25] Fluorescent dyes attached to each ddNTP are as follows: dR6G (green) for A, dTAMRA (yellow, which appears black on the electropherogram) for C, dR110 (blue) for G, and dROX (red) for T. The reactions were cycled with the following conditions: 25 cycles at 96°C for 10 seconds, 50°C for 5 seconds, and 60°C for 30 seconds. Samples were treated with one unit of shrimp alkaline phosphatase at 37°C for 45 minutes, followed by heat inactivation of enzyme at 80°C for 15 minutes.…”

Section: Allele-specific Oligodeoxyribonucleotide Single Nucleotide Ementioning

confidence: 99%

Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene

Jama

Nelson²,

Mao

et al. 2007

The Journal of Molecular Diagnostics

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Classic galactosemia is an autosomal recessive inherited error of galactose metabolism. It is caused by lack of galactose-1-phosphate uridyl transferase, an enzyme that is required to metabolize galactose-1-phosphate to uridine diphosphate galactose. The build up of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. Over 200 mutations have been identified in affected individuals. We describe an assay to identify nine target mutations or variants in the galactose-1-phosphate uridyl transferase gene, namely p.Q188R, p.S135L, p.K285N, p.L195P, p.T138M, p.Y209C, IVS2-2 A>G, p.L218L, and p.N314D. A single long-range PCR is followed by a multiplexed nucleotide extension assay (single nucleotide extension) and capillary electrophoresis to detect simultaneously all nine target mutations/variants. Fiftyfour previously characterized samples (47 clinical samples and seven controls) gave a 100% concordance. We also report a nontarget novel mutation, p.L192X, and its profile using single nucleotide extension. This assay can complement the enzyme activity assay and identify familial mutations for testing additional family members. (J Mol Diagn 2007, 9:618 -623;

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Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

Cited by 164 publications

References 21 publications

Authentication of meat from game and domestic species by SNaPshot minisequencing analysis

Authentication of meat from game and domestic species by SNaPshot minisequencing analysis

Gender bias in the multiethnic genetic composition of central Argentina

Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene

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