Proofreading genotyping assays and electrochemical detection of SNPs

被引：12

作者：

King, GC ^{[1
]}

Di Giusto, DA ^{[1
]}

Wlassoff, WA ^{[1
]}

Giesebrecht, S ^{[1
]}

Flening, E ^{[1
]}

Tyrelle, GD ^{[1
]}

机构：

[1] Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia

来源：

HUMAN MUTATION | 2004年 / 23卷 / 05期

关键词：

SBE; phosphorothioate; LNA; ferrocene; voltammetry; mutation detection; proofreading;

D O I：

10.1002/humu.20034

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The use of proofreading DNA polymerases in genotyping assays offers the prospect of improved performance. To this end, we have recently used compatible DNA polymerases, protected primers, and substrates to implement proofreading single base extension (P-SBE) and proofreading allele-specific extension (PRASE) assays. Key aspects of the RSBE and related proofreading assay formats are described here. For transduction of genotyping reactions into physical signals, electrochemical SBE implementations may offer simple, inexpensive assays in electrode array or electrophoretic formats. We have developed electrochemically-labeled nucleotides and electrode detection methods with a view to these applications. Detection of electrochemically labeled SBE products on an oligonucleotide,modified gold electrode surface is demonstrated. (C) 2004 Wiley-Liss, Inc.

引用

页码：420 / 425

页数：6

共 21 条

[1] 3′-ferrocene-labeled oligonucleotide chains end-tethered to gold electrode surfaces:: Novel model systems for exploring flexibility of short DNA using cyclic voltammetry [J].

Anne, A ;

Bouchardon, A ;

Moiroux, J .

JOURNAL OF THE AMERICAN CHEMICAL SOCIETY, 2003, 125 (05) :1112-1113

[2] Synthesis of the first ferrocene-labeled dideoxynucleotide and its use for 3′-redox end-labeling of 5′-modified single-stranded oligonucleotides [J].

Anne, A ;

Blanc, B ;

Moiroux, J .

BIOCONJUGATE CHEMISTRY, 2001, 12 (03) :396-405

[3] Use of an electrochemically labeled nucleotide terminator for known point mutation analysis [J].

Brazill, S ;

Hebert, NE ;

Kuhr, WG .

ELECTROPHORESIS, 2003, 24 (16) :2749-2757

[4] Exo-proofreading, a versatile SNP scoring technology [J].

Cahill, P ;

Bakis, M ;

Hurley, J ;

Kamath, V ;

Nielsen, W ;

Weymouth, D ;

Dupuis, J ;

Doucette-Stamm, L ;

Smith, DR .

GENOME RESEARCH, 2003, 13 (05) :925-931

[5] Single base extension (SBE) with proofreading polymerases and phosphorothioate primers: improved fidelity in single-substrate assays [J].

Di Giusto, D ;

King, GC .

NUCLEIC ACIDS RESEARCH, 2003, 31 (03) :e7

[6]

F Allen J Bard L.R., 2001, Electrochemical Methods: Fundamentals and Applications

[7] Electrochemical interrogation of conformational changes as a reagentless method for the sequence-specific detection of DNA [J].

Fan, CH ;

Plaxco, KW ;

Heeger, AJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (16) :9134-9137

[8]

Gooding JJ, 2002, ELECTROANAL, V14, P1149, DOI 10.1002/1521-4109(200209)14:17<1149::AID-ELAN1149>3.0.CO

[9]

2-8

[10] Primer specific and mispair extension analysis (PSMEA) as a simple approach to fast genotyping [J].

Hu, YW ;

Balaskas, E ;

Kessler, G ;

Issid, C ;

Scully, LJ ;

Murphy, DG ;

Rinfret, A ;

Giulivi, A ;

Scalia, V ;

Gill, P .

NUCLEIC ACIDS RESEARCH, 1998, 26 (21) :5013-5015

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