Mutation scanning using high-resolution melting

被引：82

作者：

Taylor, Claire F. ^{[1
]}

机构：

[1] St James Univ Hosp, Canc Res UK Genome Variat Serv, Leeds LS9 7TF, W Yorkshire, England

来源：

BIOCHEMICAL SOCIETY TRANSACTIONS | 2009年 / 37卷

关键词：

amplicon; genotyping; high-resolution melting (HRM); mutation detection; mutation scanning; sequence variant; CELL LUNG-CANCER; GROWTH-FACTOR RECEPTOR; PERFORMANCE LIQUID-CHROMATOGRAPHY; GENE-MUTATIONS; ACTIVATING MUTATIONS; SENSITIVE DETECTION; AMPLICON ANALYSIS; RAPID DETECTION; CURVE ANALYSIS; HETEROZYGOTES;

D O I：

10.1042/BST0370433

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mutation scanning techniques are used to detect sequence variants without the need for prior knowledge of the identity or precise location of the variant, in contrast with genotyping techniques, which determine the status of a specific variant. High-resolution melting is a recently developed method that shows great potential as a mutation scanning technique. Sensitivity and specificity for mutation detection are extremely high and the technique also has advantages of cost and throughput. Practical considerations for successful mutation scanning by high-resolution melting are also discussed in this review.

引用

页码：433 / 437

页数：5

共 50 条

[1] Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [J].

Audrezet, Marie-Pierre ;

Dabricot, Aurelia ;

Le Marechal, Cedric ;

Ferec, Claude .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2008, 10 (05) :424-434

[2] High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling [J].

Bastien, Roy ;

Lewis, Tracey B. ;

Hawkes, Jason E. ;

Quackenbush, John F. ;

Robbins, Thomas C. ;

Palazzo, Juan ;

Perou, Charles M. ;

Bernard, Philip S. .

HUMAN MUTATION, 2008, 29 (05) :757-764

[3] A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning - Cystic fibrosis transmembrane conductance regulator gene as a model [J].

Chou, LS ;

Lyon, E ;

Wittwer, CT .

AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2005, 124 (03) :330-338

[4] Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: Comparison of two high-resolution melting platforms [J].

De Leeneer, Kim ;

Coene, Ilse ;

Poppe, Bruce ;

De Paepe, Anne ;

Claes, Kathleen .

CLINICAL CHEMISTRY, 2008, 54 (06) :982-989

[5] High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies [J].

Do, Hongdo ;

Krypuy, Michael ;

Mitchell, Paul L. ;

Fox, Stephen B. ;

Dobrovic, Alexander .

BMC CANCER, 2008, 8 (1)

[6] Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene [J].

Dobrowolski, SE ;

McKinney, JT ;

Filippo, CAS ;

Sim, KG ;

Wilcken, B ;

Longo, N .

HUMAN MUTATION, 2005, 25 (03) :306-313

[7] Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine Transcarbamylase gene as a model system [J].

Dobrowolski, Steven F. ;

Ellingson, Clinton E. ;

Caldovic, Ljubica ;

Tuchman, Mendel .

HUMAN MUTATION, 2007, 28 (11) :1133-1140

[8] Mutations in the phenflalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles [J].

Dobrowolski, Steven F. ;

Ellingson, Clinton ;

Coyne, Thomas ;

Grey, Jesse ;

Martin, Ranae ;

Naylor, Edwin W. ;

Koch, Richard ;

Levy, Harvey L. .

MOLECULAR GENETICS AND METABOLISM, 2007, 91 (03) :218-227

[9] Distinguishing different DNA heterozygotes by high-resolution melting [J].

Graham, R ;

Liew, M ;

Meadows, C ;

Lyon, E ;

Wittwer, CT .

CLINICAL CHEMISTRY, 2005, 51 (07) :1295-1298

[10] Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons [J].

Gundry, Cameron N. ;

Dobrowolski, Steven F. ;

Martin, Y. Ranae ;

Robbins, Thomas C. ;

Nay, Lyle M. ;

Boyd, Nathan ;

Coyne, Thomas ;

Wall, Mikeal D. ;

Wittwer, Carl T. ;

Teng, David H. -F. .

NUCLEIC ACIDS RESEARCH, 2008, 36 (10) :3401-3408

← 1 2 3 4 5 →