Detection of aneuploidy with digital polymerase chain reaction

被引：139

作者：

Fan, H. Christina

Quake, Stephen R. ^{[1
]}

机构：

[1] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA

[2] Howard Hughes Med Inst, Stanford, CA 94305 USA

来源：

ANALYTICAL CHEMISTRY | 2007年 / 79卷 / 19期

关键词：

D O I：

10.1021/ac0709394

中图分类号：

O65 [分析化学];

学科分类号：

070302 ; 081704 ;

摘要：

The widespread use of genetic testing in high-risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down syndrome), the most common human aneuploidy. dPCR is generally applicable to any aneuploidy, does not depend on allelic distribution or gender, and is able to detect signals in the presence of mosaics or contaminating maternal DNA.

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页码：7576 / 7579

页数：4

相关论文

共 14 条

[1] Detection and quantification of mutations in the plasma of patients with colorectal tumors [J].

Diehl, F ;

Li, M ;

Dressman, D ;

He, YP ;

Shen, D ;

Szabo, S ;

Diaz, LA ;

Goodman, SN ;

David, KA ;

Juhl, H ;

Kinzler, KW ;

Vogelstein, B .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (45) :16368-16373

[2] Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations [J].

Dressman, D ;

Yan, H ;

Traverso, G ;

Kinzler, KW ;

Vogelstein, B .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (15) :8817-8822

[3]

Dudarewicz Lech, 2005, Journal of Applied Genetics, V46, P207

[4] UNITED-STATES SURVEY ON CHROMOSOME MOSAICISM AND PSEUDOMOSAICISM IN PRENATAL-DIAGNOSIS [J].

HSU, LYF ;

PERLIS, TE .

PRENATAL DIAGNOSIS, 1984, 4 :97-130

[5] Rapid and simple prenatal diagnosis of common chromosome disorders:: advantages and disadvantages of the molecular methods FISH and QF-PCR [J].

Hultén, MA ;

Dhanjal, S ;

Pertl, B .

REPRODUCTION, 2003, 126 (03) :279-297

[6] CONFIRMATION OF CVS MOSAICISM IN TERM PLACENTAE AND HIGH-FREQUENCY OF INTRAUTERINE GROWTH-RETARDATION ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM [J].

KALOUSEK, DK ;

HOWARDPEEBLES, PN ;

OLSON, SB ;

BARRETT, IJ ;

DORFMANN, A ;

BLACK, SH ;

SCHULMAN, JD ;

WILSON, RD .

PRENATAL DIAGNOSIS, 1991, 11 (10) :743-750

[7] Innovation - Prenatal diagnosis: progress through plasma nucleic acids [J].

Lo, Y. M. Dennis ;

Chiu, Rossa W. K. .

NATURE REVIEWS GENETICS, 2007, 8 (01) :71-77

[8] Genome sequencing in microfabricated high-density picolitre reactors [J].

Margulies, M ;

Egholm, M ;

Altman, WE ;

Attiya, S ;

Bader, JS ;

Bemben, LA ;

Berka, J ;

Braverman, MS ;

Chen, YJ ;

Chen, ZT ;

Dewell, SB ;

Du, L ;

Fierro, JM ;

Gomes, XV ;

Godwin, BC ;

He, W ;

Helgesen, S ;

Ho, CH ;

Irzyk, GP ;

Jando, SC ;

Alenquer, MLI ;

Jarvie, TP ;

Jirage, KB ;

Kim, JB ;

Knight, JR ;

Lanza, JR ;

Leamon, JH ;

Lefkowitz, SM ;

Lei, M ;

Li, J ;

Lohman, KL ;

Lu, H ;

Makhijani, VB ;

McDade, KE ;

McKenna, MP ;

Myers, EW ;

Nickerson, E ;

Nobile, JR ;

Plant, R ;

Puc, BP ;

Ronan, MT ;

Roth, GT ;

Sarkis, GJ ;

Simons, JF ;

Simpson, JW ;

Srinivasan, M ;

Tartaro, KR ;

Tomasz, A ;

Vogt, KA ;

Volkmer, GA .

NATURE, 2005, 437 (7057) :376-380

[9] Microfluidic digital PCR enables multigene analysis of individual environmental bacteria [J].

Ottesen, Elizabeth A. ;

Hong, Jong Wook ;

Quake, Stephen R. ;

Leadbetter, Jared R. .

SCIENCE, 2006, 314 (5804) :1464-1467

[10] Accurate multiplex polony sequencing of an evolved bacterial genome [J].

Shendure, J ;

Porreca, GJ ;

Reppas, NB ;

Lin, XX ;

McCutcheon, JP ;

Rosenbaum, AM ;

Wang, MD ;

Zhang, K ;

Mitra, RD ;

Church, GM .

SCIENCE, 2005, 309 (5741) :1728-1732