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

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.

Molecular human reproduction - 1 Mar 2007

Jacobs Lorraine, Gerards Mike, Chinnery Patrick, Dumoulin John, de Coo Ireneaus, Geraedts Joep, Smeets Hubert

Abstract excerpt

Little is known about the load of mutations and polymorphisms in the mitochondrial DNA (mtDNA) of human oocytes and the possible effect these mutations may have during life. To investigate this, we optimised at the single cell level the recently developed method to screen the entire mtDNA for mainly heteroplasmic mutations by denaturing high performance liquid chromatography analysis. This method is sensitive...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Nucleic Acid Denaturation

Share to Oocytes

Share to Oxidative Phosphorylation

Share to Prenatal Diagnosis

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 17259224
DOI: 10.1093/molehr/gal112

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.PMID 17259224Read ↗

Mitochondrial DNA mutations in human oocytes undergo frequency-dependent selection but do not increase with ageSemantic proximity Read ↗

Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing.Semantic proximity Read ↗

Allele frequency selection and no age-related increase in human oocyte mitochondrial mutationsSemantic proximity Read ↗

Evidence from human oocytes for a genetic bottleneck in an mtDNA disease.Semantic proximity Read ↗

Complete sequence of human mitochondrial DNA obtained by combining multiple displacement amplification and next-generation sequencing on a single oocyte.Semantic proximity Read ↗

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.Semantic proximity Read ↗

Mitochondrial DNA rearrangements in human oocytes and embryosSemantic proximity Read ↗

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.Semantic proximity Read ↗

Single-cell Individual Complete mtDNA Sequencing Uncovers Hidden Mitochondrial Heterogeneity in Human and Mouse OocytesSemantic proximity Read ↗

New insights on mitochondrial heteroplasmy observed in ovarian diseases.Semantic proximity Read ↗

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.Semantic proximity Read ↗

Mitochondrial DNA point mutation in human oocytes is associated with maternal ageSemantic proximity Read ↗

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