Literature DB >> 9740670

Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection.

M C O'Donovan1, P J Oefner, S C Roberts, J Austin, B Hoogendoorn, C Guy, G Speight, M Upadhyaya, S S Sommer, P McGuffin.   

Abstract

Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection. Copyright 1998 Academic Press.

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9740670     DOI： 10.1006/geno.1998.5411

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  51 in total

1.  RNA analysis by ion-pair reversed-phase high performance liquid chromatography.

Authors:  A Azarani; K H Hecker
Journal:  Nucleic Acids Res       Date:  2001-01-15       Impact factor: 16.971

2.  Targeted recovery of mutations in Drosophila.

Authors:  A Bentley; B MacLennan; J Calvo; C R Dearolf
Journal:  Genetics       Date:  2000-11       Impact factor: 4.562

3.  Global analysis of ATM polymorphism reveals significant functional constraint.

Authors:  Y R Thorstenson; P Shen; V G Tusher; T L Wayne; R W Davis; G Chu; P J Oefner
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

4.  Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

Authors:  B J van Den Bosch; R F de Coo; H R Scholte; J G Nijland; R van Den Bogaard; M de Visser; C E de Die-Smulders; H J Smeets
Journal:  Nucleic Acids Res       Date:  2000-10-15       Impact factor: 16.971

5.  High-throughput MALDI-TOF discovery of genomic sequence polymorphisms.

Authors:  Patrick Stanssens; Marc Zabeau; Geert Meersseman; Gwen Remes; Yannick Gansemans; Niels Storm; Ralf Hartmer; Christiane Honisch; Charles P Rodi; Sebastian Böcker; Dirk van den Boom
Journal:  Genome Res       Date:  2004-01       Impact factor: 9.043

6.  Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign.

Authors:  Liran I Shlush; Doron M Behar; Adrian Zelazny; Nathy Keller; James R Lupski; Arthur L Beaudet; Dani Bercovich
Journal:  J Clin Microbiol       Date:  2002-10       Impact factor: 5.948

7.  Renewable standard reference material for the detection of TP53 mutations.

Authors:  Catherine D O'Connell; Lois A Tully; Joseph M Devaney; Michael A Marino; John P Jakupciak; Donald H Atha
Journal:  Mol Diagn       Date:  2003

8.  Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Authors:  B Yu; N A Sawyer; M Caramins; Z G Yuan; R B Saunderson; R Pamphlett; D R Richmond; R W Jeremy; R J Trent
Journal:  J Clin Pathol       Date:  2005-05       Impact factor: 3.411

9.  DNA diagnostics by surface-bound melt-curve reactions.

Authors:  Linda Strömqvist Meuzelaar; Katie Hopkins; Ernesto Liebana; Anthony J Brookes
Journal:  J Mol Diagn       Date:  2007-02       Impact factor: 5.568

10.  Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation.

Authors:  Jian-Tao Liang; Li-Rong Huo; Yu-Hai Bao; Zhen-Yu Wang; Feng Ling
Journal:  Neurosci Bull       Date:  2013-11-11       Impact factor: 5.203
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.