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

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

Prenatal diagnosis - 1 Jun 2012

Phylipsen Marion, Yamsri Supawadee, Treffers Emmely E, Jansen Diahann T S L, Kanhai Warsha A, Boon Elles M J, Giordano Piero C, Fucharoen Supan, Bakker Egbert, Harteveld Cornelis L

Abstract excerpt

OBJECTIVE: The aim of this study was to develop a pyrophosphorolysis-activated polymerization (PAP) assay for non-invasive prenatal diagnosis (NIPD) of β-thalassemia major and sickle-cell disease (SCD). PAP is able to detect mutations in free fetal DNA in a highly contaminating environment of maternal plasma DNA. METHODS: Pyrophosphorolysis-activated polymerization primers were designed for 12 informative SNPs,...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Sickle Cell
Share to beta-Globins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to beta-Thalassemia

Share to Fathers

Share to Genetic Carrier Screening

Share to Leukocytes

Share to Polymerization

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 22517437
DOI: 10.1002/pd.3864

Genes

SCD

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

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.PMID 22517437Read ↗

Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma.Semantic proximity Read ↗

Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structures.Semantic proximity Read ↗

A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.Semantic proximity Read ↗

Y chromosome detection by Real Time PCR and pyrophosphorolysis‐activated polymerisation using free fetal DNA isolated from maternal plasmaSemantic proximity Read ↗

Prenatal diagnosis of hemoglobinopathies by pyrosequencing: a more sensitive and rapid approach to fetal genotyping.Semantic proximity Read ↗

Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.Semantic proximity Read ↗

Rapid prenatal diagnosis of common beta-thalassemia mutations in Southeast Asia using pyrosequencing.Semantic proximity Read ↗

Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification.Semantic proximity Read ↗

Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.Semantic proximity Read ↗

Rapid prenatal diagnosis of sickle cell diseases using oligonucleotide ligation assay coupled with laser-induced capillary fluorescence detection.Semantic proximity Read ↗

Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese.Semantic proximity Read ↗

The use of cell-free fetal DNA in maternal plasma for noninvasive prenatal linkage analysis in beta globin gene cluster.Semantic proximity Read ↗

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