Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.

Biological chemistry - 1 Oct 2010

Poole Jason C, Procaccio Vincent, Brandon Martin C, Merrick Greg, Wallace Douglas C

Abstract excerpt

The mitochondrial DNA (mtDNA) encompasses two classes of functionally important sequence variants: recent pathogenic mutations and ancient adaptive polymorphisms. To rapidly and cheaply evaluate both classes of single nucleotide variants (SNVs), we have developed an integrated system in which mtDNA SNVs are analyzed by multiplex primer extension using the SNaPshot system. A multiplex PCR amplification strategy...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line, Tumor
Share to DNA, Mitochondrial
Share to DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Internet

Share to Phylogeny

Share to Polymerase Chain Reaction

Share to Pseudogenes

Source

Open in PubMed Open full text

Identifiers

PMID: 20707610
DOI: 10.1515/BC.2010.125
PMCID: PMC4023691

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants.PMID 20707610Read ↗

Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroups.Semantic proximity Read ↗

SNaPshot typing of mitochondrial DNA coding region variants.Semantic proximity Read ↗

A rapid mtDNA assay of 22 SNPs in one multiplex reaction increases the power of forensic testing in European Caucasians.Semantic proximity Read ↗

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing.Semantic proximity Read ↗

A single multiplex PCR and SNaPshot minisequencing reaction of 42 SNPs to classify admixture populations into mitochondrial DNA haplogroups.Semantic proximity Read ↗

The establishment of a molecular diagnostic platform for mitochondrial diseases: From conventional to next-generation sequencingSemantic proximity Read ↗

mtDNA-Network: a web tool to explore mitochondrial variant profiles in complex diseasesSemantic proximity Read ↗

Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.Semantic proximity Read ↗

Typing of 24 mtDNA SNPs in a Chinese population using SNaPshot minisequencing.Semantic proximity Read ↗

An allelic ladder based upon reference alleles for mtDNA SNP analysis using the SNaPshot technique.Semantic proximity Read ↗

High-frequency and functional mitochondrial DNA mutations at the single-cell level.Semantic proximity Read ↗

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.