Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Abstract Text:

Helen E White,Victoria J Hall,Nicholas C P Cross,Helen E White,Victoria J Hall,Nicholas C P Cross,

BACKGROUND: Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13. Lack of paternal contribution results in PWS either by paternal deletion (approximately 70%) or maternal uniparental disomy (UPD) (approximately 25%). Most cases of AS result from the lack of a maternal contribution from this same region, by maternal deletion (70%) or paternal UPD (approximately 5%). Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus differentiates the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS. METHODS: Methylation-sensitive high-resolution melting-curve analysis (MS-HRM) using the DNA binding dye EvaGreen was used to analyze methylation differences at the SNRPN locus in anonymized DNA samples from individuals with PWS (n = 39) or AS (n = 31) and from healthy control individuals (n = 95). Results from the MS-HRM assay were compared to those obtained by use of a methylation-specific PCR (MSP) protocol that is used commonly in diagnostic practice. RESULTS: With the MS-HRM assay 97.6% of samples were unambiguously assigned to the 3 diagnostic categories (AS, PWS, normal) by use of automated calling with an 80% confidence percentage threshold, and the failure rate was 0.6%. One PWS sample showed a discordant result for the MS-HRM assay compared to MSP data. CONCLUSIONS: MS-HRM is a simple, rapid, and robust method for screening methylation differences at the SNRPN locus and could be used as a diagnostic screen for PWS and AS.

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Publishing Authors By Initials

HE White,VJ Hall,NC Cross,HE White,VJ Hall,NC Cross,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical chemistry

VOLUME: 53

Page Numbers: 1960-2

Journal Abbreviation: Clin. Chem.

ISSN: 0009-9147

DAY: 21

MONTH: 09

YEAR: 2007

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9421549

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.

AFFILIATION: National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Odstock, Salisbury, Wiltshire, United Kingdom. H.E.White@soton.ac.uk

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Clin Chem

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes Related Publications

• A Viral Envelope as a Vehicle for Tracer, Drug, and Gene Delivery: Initial Biodistribution Study Using PET Imaging.
• Angiostatin and endostatin inhibit endothelial cell migration in response to FGF and VEGF without interfering with specific intracellular signal transduction pathways.
• Apoptosis-associated changes in the glycerophospholipid composition of hematopoietic progenitor cells monitored by 31P NMR spectroscopy and MALDI-TOF mass spectrometry.
• Backbone structure of the amantadine-blocked trans-membrane domain M2 proton channel from Influenza A virus.
• Community sexually transmitted infection services are good enough: a qualitative study of clients' experiences.
• Consequences of telomere shortening at an active VSG expression site in telomerase-deficient Trypanosoma brucei.
• Cyclin and cyclin-dependent kinase substrate requirements for preventing rereplication reveal the need for concomitant activation and inhibition.
• Detection of the Ki-67 antigen in fixed and wax-embedded sections with the monoclonal antibody MIB1. D. McCormick H. Chong, C. Hobbs, C. Datta & P. A. Hall. Histopathology 1993; 22; 355-360.
• Diagnostic and therapeutic management of eosinophilia-associated chronic myeloproliferative disorders.
• Diet and risk of multiple myeloma in Connecticut women.
• Endovascular treatment of vertebral artery-origin and innominate/subclavian disease: indications and technique.
• Expert commentary.
• Expert commentary.
• Further evidence of attention bias for negative information in late life depression.
• Genome-wide screening of alpha-tocopherol sensitive genes in heart tissue from alpha-tocopherol transfer protein null mice (ATTP(-/-)).
• Higher IgG index found in African Americans versus Caucasians with multiple sclerosis.
• Histone modifications in Trypanosoma brucei.
• Laser hair removal.
• Maintaining eye care services during times of conflict.
• Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.
• Morbidity profiles of patients consulting during influenza and respiratory syncytial virus active periods.
• Percutaneous absorption of topically applied NSAIDS and other compounds: Role of solute properties, skin physiology and delivery systems.
• Protective role of Bacillus anthracis exosporium in macrophage-mediated killing by nitric oxide.
• Role of Bacillus anthracis spore structures in macrophage cytokine responses.
• Salivary hormones and parturition in healthy, primigravid women.
• Single-institution experience with matrix coils in the treatment of intracranial aneurysms: comparison with same-center outcomes with the use of platinum coils.
• The chemical and dynamical influence of the anti-viral drug amantadine on the M2 proton channel transmembrane domain.
• Uniformly aligned full-length membrane proteins in liquid crystalline bilayers for structural characterization.
• Vascular endothelial growth factor receptor-2: structure, function, intracellular signalling and therapeutic inhibition.
• [Application of denaturing high performance liquid chromatography to mutation detection of the c-kit gene in mastocytosis]