Search Thermo Fisher Scientific
TaqMan 拷贝数测定 
预设计 TaqMan™ 拷贝数测定非常适合分析人和小鼠基因组中的拷贝数变异 (CNV) 和较小区域。CNV 是与癌症、免疫疾病和神经系统疾病等疾病以及药物代谢相关的重要多态性。
- 目前较为简单的拷贝数变异研究方法
- 可用于常见载体标记和报告基因的测定
- 以较高的特异性和重现性定量测定不同的拷贝数变化
人测定系列包括超过160万种靶向基因外显子和内含子、基因外区域以及基因组变异数据库 (DGV) 中的 CNV 序列的测定。小鼠测定系列包括超过180,000种靶向基因外显子的测定。我们还提供常见载体标记和报告基因测定用于转基因研究。
测定搜索工具——查找和购买适合您的单管 TaqMan® 测定：
需要定制设计的 TaqMan 拷贝数测定？从这里开始 ›
| 预配制测定 |
|
| 文档 | 可从 thermofisher.com/taqmanfiles 下载：
|
| 测定信息文件 (AIF) | 预设计测定 AIF 包括：销售订单号、发货日期、部件号、产品类型、测定 ID、批号、检测混合物浓度、引物 & 探针浓度、报告基团染料 & 淬灭剂、上下游序列（包括探针区域）、基因 ID（如适用）、DGV ID（如适用）、物种、细胞遗传学谱带、在 NCBI 参照基因组组装上的位置（上下游序列中间）、组装构建版本和其他信息。不提供测定序列。 |
| 反应 | 在96孔板中足以进行360、750或2,900次 20 μL 反应；在384孔板中足以进行720、1,500或5,800次 10 μL 反应（取决于订购规模） |
| 追踪/识别 |
|
| 有效期 | 自生产之日起5年。 |
| 运输及储存 | 在环境温度下运输。 |
| 货号 | 规格 | 20 µL 反应次数（96孔） | 10 µL 反应次数（384孔） |
|---|---|---|---|
| 4400291 | S：20倍浓度 | 360 | 720 |
| 4400292 | M：20倍浓度 | 750 | 1,500 |
| 4400293 | L：60倍浓度 | 2,900 | 5,800 |
美国交货时间约为 4-6 天，欧洲约为 6-10 天。
Low copy number of the salivary amylase gene predisposes to obesity.
VOLUME 46.NUMBER 5.MAY 2014 Nature Genetics.Mario Falchi et. al.- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
出版物：VOLUME 40 [ NUMBER 3 [ MARCH 2008 NATURE GENETICS 322-328
作者：Andrew J Sharp1,15, Heather C Mefford1, Kelly Li2, Carl Baker1, Cindy Skinner3, Roger E Stevenson3, Richard J Schroer3, Francesca Novara4, Manuela De Gregori4, Roberto Ciccone4, Adam Broomer2, Iris Casuga2, Yu Wang2, Chunlin Xiao2, Catalin Barbacioru2, Giorgio Gimelli5, Bernardo Dalla Bernardina6, Claudia Torniero6, Roberto Giorda7, Regina Regan8, Victoria Murday9, Sahar Mansour10, Marco Fichera11, Lucia Castiglia11, Pinella Failla11, Mario Ventura12, Zhaoshi Jiang1, Gregory M Cooper1, Samantha J L Knight8, Corrado Romano11, Orsetta Zuffardi4,13, Caifu Chen2, Charles E Schwartz3 & Evan E Eichler1,14
另请参阅：http://www.ncbi.nlm.nih.gov/pubmed/18278044 - Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
出版物：N Engl J Med 2008;359. n engl j med 10.1056/nejmoa0805384
作者：H. Mefford, A. Sharp, C. Baker, A. Itsara, Z. Jiang, K. Buysse, S. Huang, V. Maloney, J. Crolla, D. Baralle, A. Collins, C. Mercer, K. Norga, T. de Ravel, K. Devriendt, E. Bongers, N. de Leeuw, W. Reardon, S. Gimelli, F. Bena, R. Hennekam, A. Male, L. Gaunt, J. Clayton-Smith, I. Simonic, S. Park, S. Mehta, S. Nik-Zainal, C. Woods, H. Firth, G. Parkin, M. Fichera, S. Reitano, M. Lo Giudice, K. Li, I. Casuga, A. Broomer, B. Conrad, M. Schwerzmann, L. Räber, S. Gallati, P. Striano, A. Coppola, J. Tolmie, E. Tobias, C. Lilley, L. Armengol, Y. Spysschaert, P. Verloo, A. De Coene, L. Goossens, G. Mortier, F. Speleman, E. van Binsbergen, M. Nelen, R. Hochstenbach, M. Poot, L. Gallagher, M. Gill, J. McClellan, M.-C. King, R. Regan, C. Skinner, R. Stevenson, S. Antonarakis, C. Chen, X. Estivill, B. Menten, G. Gimelli, S. Gribble, S. Schwartz,
J. Sutcliffe, T. Walsh, S. Knight, J. Sebat, C. Romano, C. Schwartz, J. Veltman, B. de Vries, J. Vermeesch, J. Barber, L. Willatt, M. Tassabehji, and E. Eichler*
另请参阅：http://www.nejm.org/doi/full/10.1056/NEJMoa0805384 - Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays
出版物：Anal Biochem.2009 Mar 15;386(2):288-90.
作者：Holly N. Cukier, Margaret A. Pericak-Vance, John R. Gilbert, Dale J. Hedges *
另请参阅：http://www.sciencedirect.com/science/article/pii/S0003269708008051 - Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
出版物：Human Molecular Genetics, 2009, Vol. 18, No. 19 3626–3631 doi:10.1093/hmg/ddp311
作者：Leanne M. Dibbens1,2,_, Saul Mullen4, Ingo Helbig5,9, Heather C. Mefford6,7, Marta A. Bayly1,
Susannah Bellows4, Costin Leu8,9, Holger Trucks8,9, Tanja Obermeier5,9, Michael Wittig5,9, Andre Franke5,9, Hande Caglayan9,10, Zuhal Yapici9,11, EPICURE Consortium9{Thomas Sander8,9, Evan E. Eichler6,7, Ingrid E. Scheffer4,12, John C. Mulley1,3 and Samuel F. Berkovic4
另请参阅：http://hmg.oxfordjournals.org/content/18/19/3626.long - Dissection of Chromosome 16p12 Linkage Peak Suggests a Possible Role for CACNG3 Variants in Age-Related Macular Degeneration Susceptibility.
出版物：Invest Ophthalmol Vis Sci.2010 Dec 17.[Epub ahead of print]
作者：Spencer KL, Olson LM, Schnetz-Boutaud N, Gallins P, Wang G, Scott WK, Agarwal A, Jakobsdottir J, Conley Y, Weeks DE, Gorin MB, Pericak-Vance MA, Haines JL.
另请参阅：http://www.iovs.org/content/52/3/1748.long - A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease
出版物：HUMAN MUTATION Mutation in Brief 31: E1767-E1771 (2010) Online
作者：Güney Bademci1, Todd L. Edwards2, Andre L. Torres1, William K. Scott1,3, Stephan Züchner1,3, Eden R. Martin1,3, Jeffery M. Vance1,3, and Liyong Wang1,3*
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025121/?tool=pubmed - Dynamic Changes in the Copy Number of Pluripotency and Cell Proliferation Genes in Human ESCs and iPSCs during Reprogramming and Time in Culture
出版物：Cell Stem Cell 8, 106–118, January 7, 2011 ª2011 Elsevier Inc.
作者：Louise C. Laurent,1,3,4,* Igor Ulitsky,6,7 Ileana Slavin,3,4 Ha Tran,3,4 Andrew Schork,2 Robert Morey,1,3,4 Candace Lynch,3,4, Julie V. Harness,8 Sunray Lee,9 Maria J. Barrero,10,11 Sherman Ku,5 Marina Martynova,12 Ruslan Semechkin,12, Vasiliy Galat,13,14 Joel Gottesfeld,5 Juan Carlos Izpisua Belmonte,10,11 Chuck Murry,15 Hans S. Keirstead,8, Hyun-Sook Park,9 Uli Schmidt,16 Andrew L. Laslett,17,18,19 Franz-Josef Muller,3,4 Caroline M. Nievergelt,2 Ron Shamir,7, and Jeanne F. Loring3,4
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3043464/?tool=pubmed - CNV Analysis Using TaqMan Copy Number Assays
出版物：Current Protocols in Human Genetics 2.13.1-2.13.10, October 2010
作者：Ping Mayo,1 Toinette Hartshorne,2 Kelly Li,2 Chara McMunn-Gibson,1Kylee Spencer,1 and Nathalie Schnetz-Boutaud1
另请参阅：http://onlinelibrary.wiley.com/doi/10.1002/0471142905.hg0213s67/abstract;jsessionid=A422A349D5A55C71489F098AE6BBA306.d03t01 - Differential quantification of CYP2D6 gene copy number by four different quantitative real-time PCR assays
出版物：Pharmacogenetics and Genomics 2010, Vol 20 No 7 452-454
作者：Anuradha Ramamoorthya,b, David A. Flockharta,b, Naoya Hosonoc, Michiaki Kuboc, Yusuke Nakamurac,d and Todd C. Skaara - Population-specific GSTM1 copy number variation
出版物：Human Molecular Genetics, 2009, Vol. 18, No. 2 366–372
作者：R. Stephanie Huang1, Peixian Chen2, Steve Wisel1, Shiwei Duan1, Wei Zhang1, Edwin H. Cook4,
Soma Das2, Nancy J. Cox3 and M. Eileen Dolan1
另请参阅：http://hmg.oxfordjournals.org/content/18/2/366.long - Analysis of Immune Regulatory Genes' Copy Number Variants in Graves' Disease
出版物：Thyroid.January 2011, 21(1): 69-74. doi:10.1089/thy.2010.0262.
作者：Amanda K. Huber, Erlinda S. Concepcion, Alisha Gandhi, Francesca Menconi, Eric P. Smith, Mehdi Keddache, Yaron Tomer.
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012451/?tool=pubmed - Copy Number Variants of GSTM1 and GSTT1 in Relation to Lung Cancer Risk in a Prospective Cohort Study
出版物：Ann Epidemiol.2009 Aug;19(8):546-52.Epub 2009 Apr 25.
作者：TRAM KIM LAM, PhD, INGO RUCZINSKI, PhD, KATHY HELZLSOUER, MD, YIN
YAO SHUGART, PhD, KELLY E. LI, PhD, SANDRA CLIPP, MPH, PAUL T. STRICKLAND, PhD,
AND ANTHONY J. ALBERG, PhD
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720160/?tool=pubmed - Effects of GSTM1 in Rheumatoid Arthritis; Results from the Swedish EIRA study.
出版物：PLoS ONE 6(3): e17880. doi:10.1371/journal.pone.0017880 (2011)
作者：Emeli Lundström1*, Toinette Hartshorne2, Kelly Li2, Staffan Lindblad1, Marius C. Wick1,3, Camilla Bengtsson4, Lars Alfredsson4, Lars Klareskog1, Leonid Padyukov1
另请参阅：http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0017880 - Origins and functional effect of copy number variation in the human genome
出版物：Nature.2010 Apr 1;464(7289):704-12.Epub 2009 Oct 7.
作者：Donald F. Conrad1*, Dalila Pinto2*, Richard Redon1,3, Lars Feuk2,4, Omer Gokumen5, Yujun Zhang1, Jan Aerts1, T. Daniel Andrews1, Chris Barnes1, Peter Campbell1, Tomas Fitzgerald1, Min Hu1, Chun HwaIhm5, Kati Kristiansson1, Daniel G. MacArthur1, Jeffrey R. MacDonald2, Ifejinelo Onyiah1, Andy Wing Chun Pang2, Sam Robson1, Kathy Stirrups1, Armand Valsesia1, Klaudia Walter1, John Wei2, Wellcome Trust Case Control Consortium, Chris Tyler-Smith1, Nigel P. Carter1, Charles Lee5, Stephen W. Scherer2,6 & Matthew E. Hurles1 - Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
出版物：Brain.2010 Jan;133(Pt 1):23-32.Epub 2009 Oct 20.
作者：de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T.
另请参阅：http://brain.oxfordjournals.org/content/133/1/23.long - Identification of de novo copy number variants associated with human disorders of sexual development.
出版物：PLoS One.2010 Oct 26;5(10):e15392.
作者：Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ.
另请参阅：http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0015392 - Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations.
出版物：PLoS One.2010 Feb 19;5(2):e9317.
作者：Tuch BB, Laborde RR, Xu X, Gu J, Chung CB, Monighetti CK, Stanley SJ, Olsen KD, Kasperbauer JL, Moore EJ, Broomer AJ, Tan R, Brzoska PM, Muller MW, Siddiqui AS, Asmann YW, Sun Y, Kuersten S, Barker MA, De La Vega FM, Smith DI.
另请参阅：http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0009317 - 新增：
- Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population.
出版物：PLoS One.2013 Jan; 8(1); e52239
作者：Nori Matsunami, Dexter Hadley, Charles H. Hensel, G. Bryce Christensen, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Jeff Stevens, Lisa Baird, Brith Otterud, Karen Ho, Tena Varvil, Tami Leppert, Christophe G. Lambert, Mark Leppert, Hakon Hakonarson. - Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
出版物：BMC Research Notes 2011, 4:476
作者：Håkan Thonberg, Marie Fallström, Jenny Björkström, Jacqueline Schoumans, Inger Nennesmo and Caroline Graff.
| 预配制测定 |
|
| 文档 | 可从 thermofisher.com/taqmanfiles 下载：
|
| 测定信息文件 (AIF) | 预设计测定 AIF 包括：销售订单号、发货日期、部件号、产品类型、测定 ID、批号、检测混合物浓度、引物 & 探针浓度、报告基团染料 & 淬灭剂、上下游序列（包括探针区域）、基因 ID（如适用）、DGV ID（如适用）、物种、细胞遗传学谱带、在 NCBI 参照基因组组装上的位置（上下游序列中间）、组装构建版本和其他信息。不提供测定序列。 |
| 反应 | 在96孔板中足以进行360、750或2,900次 20 μL 反应；在384孔板中足以进行720、1,500或5,800次 10 μL 反应（取决于订购规模） |
| 追踪/识别 |
|
| 有效期 | 自生产之日起5年。 |
| 运输及储存 | 在环境温度下运输。 |
| 货号 | 规格 | 20 µL 反应次数（96孔） | 10 µL 反应次数（384孔） |
|---|---|---|---|
| 4400291 | S：20倍浓度 | 360 | 720 |
| 4400292 | M：20倍浓度 | 750 | 1,500 |
| 4400293 | L：60倍浓度 | 2,900 | 5,800 |
美国交货时间约为 4-6 天，欧洲约为 6-10 天。
Low copy number of the salivary amylase gene predisposes to obesity.
VOLUME 46.NUMBER 5.MAY 2014 Nature Genetics.Mario Falchi et. al.- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
出版物：VOLUME 40 [ NUMBER 3 [ MARCH 2008 NATURE GENETICS 322-328
作者：Andrew J Sharp1,15, Heather C Mefford1, Kelly Li2, Carl Baker1, Cindy Skinner3, Roger E Stevenson3, Richard J Schroer3, Francesca Novara4, Manuela De Gregori4, Roberto Ciccone4, Adam Broomer2, Iris Casuga2, Yu Wang2, Chunlin Xiao2, Catalin Barbacioru2, Giorgio Gimelli5, Bernardo Dalla Bernardina6, Claudia Torniero6, Roberto Giorda7, Regina Regan8, Victoria Murday9, Sahar Mansour10, Marco Fichera11, Lucia Castiglia11, Pinella Failla11, Mario Ventura12, Zhaoshi Jiang1, Gregory M Cooper1, Samantha J L Knight8, Corrado Romano11, Orsetta Zuffardi4,13, Caifu Chen2, Charles E Schwartz3 & Evan E Eichler1,14
另请参阅：http://www.ncbi.nlm.nih.gov/pubmed/18278044 - Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
出版物：N Engl J Med 2008;359. n engl j med 10.1056/nejmoa0805384
作者：H. Mefford, A. Sharp, C. Baker, A. Itsara, Z. Jiang, K. Buysse, S. Huang, V. Maloney, J. Crolla, D. Baralle, A. Collins, C. Mercer, K. Norga, T. de Ravel, K. Devriendt, E. Bongers, N. de Leeuw, W. Reardon, S. Gimelli, F. Bena, R. Hennekam, A. Male, L. Gaunt, J. Clayton-Smith, I. Simonic, S. Park, S. Mehta, S. Nik-Zainal, C. Woods, H. Firth, G. Parkin, M. Fichera, S. Reitano, M. Lo Giudice, K. Li, I. Casuga, A. Broomer, B. Conrad, M. Schwerzmann, L. Räber, S. Gallati, P. Striano, A. Coppola, J. Tolmie, E. Tobias, C. Lilley, L. Armengol, Y. Spysschaert, P. Verloo, A. De Coene, L. Goossens, G. Mortier, F. Speleman, E. van Binsbergen, M. Nelen, R. Hochstenbach, M. Poot, L. Gallagher, M. Gill, J. McClellan, M.-C. King, R. Regan, C. Skinner, R. Stevenson, S. Antonarakis, C. Chen, X. Estivill, B. Menten, G. Gimelli, S. Gribble, S. Schwartz,
J. Sutcliffe, T. Walsh, S. Knight, J. Sebat, C. Romano, C. Schwartz, J. Veltman, B. de Vries, J. Vermeesch, J. Barber, L. Willatt, M. Tassabehji, and E. Eichler*
另请参阅：http://www.nejm.org/doi/full/10.1056/NEJMoa0805384 - Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays
出版物：Anal Biochem.2009 Mar 15;386(2):288-90.
作者：Holly N. Cukier, Margaret A. Pericak-Vance, John R. Gilbert, Dale J. Hedges *
另请参阅：http://www.sciencedirect.com/science/article/pii/S0003269708008051 - Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
出版物：Human Molecular Genetics, 2009, Vol. 18, No. 19 3626–3631 doi:10.1093/hmg/ddp311
作者：Leanne M. Dibbens1,2,_, Saul Mullen4, Ingo Helbig5,9, Heather C. Mefford6,7, Marta A. Bayly1,
Susannah Bellows4, Costin Leu8,9, Holger Trucks8,9, Tanja Obermeier5,9, Michael Wittig5,9, Andre Franke5,9, Hande Caglayan9,10, Zuhal Yapici9,11, EPICURE Consortium9{Thomas Sander8,9, Evan E. Eichler6,7, Ingrid E. Scheffer4,12, John C. Mulley1,3 and Samuel F. Berkovic4
另请参阅：http://hmg.oxfordjournals.org/content/18/19/3626.long - Dissection of Chromosome 16p12 Linkage Peak Suggests a Possible Role for CACNG3 Variants in Age-Related Macular Degeneration Susceptibility.
出版物：Invest Ophthalmol Vis Sci.2010 Dec 17.[Epub ahead of print]
作者：Spencer KL, Olson LM, Schnetz-Boutaud N, Gallins P, Wang G, Scott WK, Agarwal A, Jakobsdottir J, Conley Y, Weeks DE, Gorin MB, Pericak-Vance MA, Haines JL.
另请参阅：http://www.iovs.org/content/52/3/1748.long - A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease
出版物：HUMAN MUTATION Mutation in Brief 31: E1767-E1771 (2010) Online
作者：Güney Bademci1, Todd L. Edwards2, Andre L. Torres1, William K. Scott1,3, Stephan Züchner1,3, Eden R. Martin1,3, Jeffery M. Vance1,3, and Liyong Wang1,3*
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025121/?tool=pubmed - Dynamic Changes in the Copy Number of Pluripotency and Cell Proliferation Genes in Human ESCs and iPSCs during Reprogramming and Time in Culture
出版物：Cell Stem Cell 8, 106–118, January 7, 2011 ª2011 Elsevier Inc.
作者：Louise C. Laurent,1,3,4,* Igor Ulitsky,6,7 Ileana Slavin,3,4 Ha Tran,3,4 Andrew Schork,2 Robert Morey,1,3,4 Candace Lynch,3,4, Julie V. Harness,8 Sunray Lee,9 Maria J. Barrero,10,11 Sherman Ku,5 Marina Martynova,12 Ruslan Semechkin,12, Vasiliy Galat,13,14 Joel Gottesfeld,5 Juan Carlos Izpisua Belmonte,10,11 Chuck Murry,15 Hans S. Keirstead,8, Hyun-Sook Park,9 Uli Schmidt,16 Andrew L. Laslett,17,18,19 Franz-Josef Muller,3,4 Caroline M. Nievergelt,2 Ron Shamir,7, and Jeanne F. Loring3,4
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3043464/?tool=pubmed - CNV Analysis Using TaqMan Copy Number Assays
出版物：Current Protocols in Human Genetics 2.13.1-2.13.10, October 2010
作者：Ping Mayo,1 Toinette Hartshorne,2 Kelly Li,2 Chara McMunn-Gibson,1Kylee Spencer,1 and Nathalie Schnetz-Boutaud1
另请参阅：http://onlinelibrary.wiley.com/doi/10.1002/0471142905.hg0213s67/abstract;jsessionid=A422A349D5A55C71489F098AE6BBA306.d03t01 - Differential quantification of CYP2D6 gene copy number by four different quantitative real-time PCR assays
出版物：Pharmacogenetics and Genomics 2010, Vol 20 No 7 452-454
作者：Anuradha Ramamoorthya,b, David A. Flockharta,b, Naoya Hosonoc, Michiaki Kuboc, Yusuke Nakamurac,d and Todd C. Skaara - Population-specific GSTM1 copy number variation
出版物：Human Molecular Genetics, 2009, Vol. 18, No. 2 366–372
作者：R. Stephanie Huang1, Peixian Chen2, Steve Wisel1, Shiwei Duan1, Wei Zhang1, Edwin H. Cook4,
Soma Das2, Nancy J. Cox3 and M. Eileen Dolan1
另请参阅：http://hmg.oxfordjournals.org/content/18/2/366.long - Analysis of Immune Regulatory Genes' Copy Number Variants in Graves' Disease
出版物：Thyroid.January 2011, 21(1): 69-74. doi:10.1089/thy.2010.0262.
作者：Amanda K. Huber, Erlinda S. Concepcion, Alisha Gandhi, Francesca Menconi, Eric P. Smith, Mehdi Keddache, Yaron Tomer.
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012451/?tool=pubmed - Copy Number Variants of GSTM1 and GSTT1 in Relation to Lung Cancer Risk in a Prospective Cohort Study
出版物：Ann Epidemiol.2009 Aug;19(8):546-52.Epub 2009 Apr 25.
作者：TRAM KIM LAM, PhD, INGO RUCZINSKI, PhD, KATHY HELZLSOUER, MD, YIN
YAO SHUGART, PhD, KELLY E. LI, PhD, SANDRA CLIPP, MPH, PAUL T. STRICKLAND, PhD,
AND ANTHONY J. ALBERG, PhD
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720160/?tool=pubmed - Effects of GSTM1 in Rheumatoid Arthritis; Results from the Swedish EIRA study.
出版物：PLoS ONE 6(3): e17880. doi:10.1371/journal.pone.0017880 (2011)
作者：Emeli Lundström1*, Toinette Hartshorne2, Kelly Li2, Staffan Lindblad1, Marius C. Wick1,3, Camilla Bengtsson4, Lars Alfredsson4, Lars Klareskog1, Leonid Padyukov1
另请参阅：http://www.plosone.org/article/info:doi/10.1371/journal.pone.0017880 - Origins and functional effect of copy number variation in the human genome
出版物：Nature.2010 Apr 1;464(7289):704-12.Epub 2009 Oct 7.
作者：Donald F. Conrad1*, Dalila Pinto2*, Richard Redon1,3, Lars Feuk2,4, Omer Gokumen5, Yujun Zhang1, Jan Aerts1, T. Daniel Andrews1, Chris Barnes1, Peter Campbell1, Tomas Fitzgerald1, Min Hu1, Chun HwaIhm5, Kati Kristiansson1, Daniel G. MacArthur1, Jeffrey R. MacDonald2, Ifejinelo Onyiah1, Andy Wing Chun Pang2, Sam Robson1, Kathy Stirrups1, Armand Valsesia1, Klaudia Walter1, John Wei2, Wellcome Trust Case Control Consortium, Chris Tyler-Smith1, Nigel P. Carter1, Charles Lee5, Stephen W. Scherer2,6 & Matthew E. Hurles1 - Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
出版物：Brain.2010 Jan;133(Pt 1):23-32.Epub 2009 Oct 20.
作者：de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T.
另请参阅：http://brain.oxfordjournals.org/content/133/1/23.long - Identification of de novo copy number variants associated with human disorders of sexual development.
出版物：PLoS One.2010 Oct 26;5(10):e15392.
作者：Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ.
另请参阅：http://www.plosone.org/article/info:doi/10.1371/journal.pone.0015392 - Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations.
出版物：PLoS One.2010 Feb 19;5(2):e9317.
作者：Tuch BB, Laborde RR, Xu X, Gu J, Chung CB, Monighetti CK, Stanley SJ, Olsen KD, Kasperbauer JL, Moore EJ, Broomer AJ, Tan R, Brzoska PM, Muller MW, Siddiqui AS, Asmann YW, Sun Y, Kuersten S, Barker MA, De La Vega FM, Smith DI.
另请参阅：http://www.plosone.org/article/info:doi/10.1371/journal.pone.0009317 - 新增：
- Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population.
出版物：PLoS One.2013 Jan; 8(1); e52239
作者：Nori Matsunami, Dexter Hadley, Charles H. Hensel, G. Bryce Christensen, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Jeff Stevens, Lisa Baird, Brith Otterud, Karen Ho, Tena Varvil, Tami Leppert, Christophe G. Lambert, Mark Leppert, Hakon Hakonarson. - Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
出版物：BMC Research Notes 2011, 4:476
作者：Håkan Thonberg, Marie Fallström, Jenny Björkström, Jacqueline Schoumans, Inger Nennesmo and Caroline Graff.
仅供科研使用，不可用于诊断目的。
描述
预设计 TaqMan 拷贝数测定非常适合分析人和小鼠基因组中的拷贝数变异 (CNV) 和较小区域。CNV 是与癌症、免疫疾病和神经系统疾病等疾病以及药物代谢相关的重要多态性。
- 目前较为简单的拷贝数变异研究方法
- 可用于常见载体标记和报告基因的测定
- 以较高的特异性和重现性定量测定不同的拷贝数变化
需要定制设计的 TaqMan 拷贝数测定？从这里开始 >
规格
一般规格
| 预配制测定： |
|
| 文档： | 光盘包含
|
| 测定信息文件 (AIF)： | 预设计测定 AIF 包括：销售订单号、发货日期、部件号、产品类型、测定 ID、批号、检测混合物浓度、引物 & 探针浓度、报告基团染料 & 淬灭剂、上下游序列（包括探针区域）、基因 ID（如适用）、DGV ID（如适用）、物种、细胞遗传学谱带、在 NCBI 参照基因组组装上的位置（上下游序列中间）、组装构建版本和其他信息。不提供测定序列。 |
| 反应： | 在96孔板中足以进行360、750或2,900次 20 μL 反应；在384孔板中足以进行720、1,500或5,800次 10 μL 反应（取决于订购规模） |
| 追踪/识别： |
|
| 有效期： | 自生产之日起5年。 |
运输及储存
在环境温度下运输。
在 -15°C 至 -25°C 下避光储存，并尽量减少冻融循环。
白皮书：环境温度运输可降低环境影响并保持质量和稳定性
文档
产品文献
引文（网络）
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
出版物：VOLUME 40 [ NUMBER 3 [ MARCH 2008 NATURE GENETICS 322-328
作者：Andrew J Sharp1,15, Heather C Mefford1, Kelly Li2, Carl Baker1, Cindy Skinner3, Roger E Stevenson3, Richard J Schroer3, Francesca Novara4, Manuela De Gregori4, Roberto Ciccone4, Adam Broomer2, Iris Casuga2, Yu Wang2, Chunlin Xiao2, Catalin Barbacioru2, Giorgio Gimelli5, Bernardo Dalla Bernardina6, Claudia Torniero6, Roberto Giorda7, Regina Regan8, Victoria Murday9, Sahar Mansour10, Marco Fichera11, Lucia Castiglia11, Pinella Failla11, Mario Ventura12, Zhaoshi Jiang1, Gregory M Cooper1, Samantha J L Knight8, Corrado Romano11, Orsetta Zuffardi4,13, Caifu Chen2, Charles E Schwartz3 & Evan E Eichler1,14
另请参阅：http://www.ncbi.nlm.nih.gov/pubmed/18278044 - Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
出版物：N Engl J Med 2008;359. n engl j med 10.1056/nejmoa0805384
作者：H. Mefford, A. Sharp, C. Baker, A. Itsara, Z. Jiang, K. Buysse, S. Huang, V. Maloney, J. Crolla, D. Baralle, A. Collins, C. Mercer, K. Norga, T. de Ravel, K. Devriendt, E. Bongers, N. de Leeuw, W. Reardon, S. Gimelli, F. Bena, R. Hennekam, A. Male, L. Gaunt, J. Clayton-Smith, I. Simonic, S. Park, S. Mehta, S. Nik-Zainal, C. Woods, H. Firth, G. Parkin, M. Fichera, S. Reitano, M. Lo Giudice, K. Li, I. Casuga, A. Broomer, B. Conrad, M. Schwerzmann, L. Räber, S. Gallati, P. Striano, A. Coppola, J. Tolmie, E. Tobias, C. Lilley, L. Armengol, Y. Spysschaert, P. Verloo, A. De Coene, L. Goossens, G. Mortier, F. Speleman, E. van Binsbergen, M. Nelen, R. Hochstenbach, M. Poot, L. Gallagher, M. Gill, J. McClellan, M.-C. King, R. Regan, C. Skinner, R. Stevenson, S. Antonarakis, C. Chen, X. Estivill, B. Menten, G. Gimelli, S. Gribble, S. Schwartz,
J. Sutcliffe, T. Walsh, S. Knight, J. Sebat, C. Romano, C. Schwartz, J. Veltman, B. de Vries, J. Vermeesch, J. Barber, L. Willatt, M. Tassabehji, and E. Eichler*
另请参阅：http://www.nejm.org/doi/full/10.1056/NEJMoa0805384 - Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays
出版物：Anal Biochem.2009 Mar 15;386(2):288-90.
作者：Holly N. Cukier, Margaret A. Pericak-Vance, John R. Gilbert, Dale J. Hedges *
另请参阅：http://www.sciencedirect.com/science/article/pii/S0003269708008051 - Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
出版物：Human Molecular Genetics, 2009, Vol. 18, No. 19 3626–3631 doi:10.1093/hmg/ddp311
作者：Leanne M. Dibbens1,2,_, Saul Mullen4, Ingo Helbig5,9, Heather C. Mefford6,7, Marta A. Bayly1,
Susannah Bellows4, Costin Leu8,9, Holger Trucks8,9, Tanja Obermeier5,9, Michael Wittig5,9, Andre Franke5,9, Hande Caglayan9,10, Zuhal Yapici9,11, EPICURE Consortium9{Thomas Sander8,9, Evan E. Eichler6,7, Ingrid E. Scheffer4,12, John C. Mulley1,3 and Samuel F. Berkovic4
另请参阅：http://hmg.oxfordjournals.org/content/18/19/3626.long - Dissection of Chromosome 16p12 Linkage Peak Suggests a Possible Role for CACNG3 Variants in Age-Related Macular Degeneration Susceptibility.
出版物：Invest Ophthalmol Vis Sci.2010 Dec 17.[Epub ahead of print]
作者：Spencer KL, Olson LM, Schnetz-Boutaud N, Gallins P, Wang G, Scott WK, Agarwal A, Jakobsdottir J, Conley Y, Weeks DE, Gorin MB, Pericak-Vance MA, Haines JL.
另请参阅：http://www.iovs.org/content/52/3/1748.long - A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease
出版物：HUMAN MUTATION Mutation in Brief 31: E1767-E1771 (2010) Online
作者：Güney Bademci1, Todd L. Edwards2, Andre L. Torres1, William K. Scott1,3, Stephan Züchner1,3, Eden R. Martin1,3, Jeffery M. Vance1,3, and Liyong Wang1,3*
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025121/?tool=pubmed - Dynamic Changes in the Copy Number of Pluripotency and Cell Proliferation Genes in Human ESCs and iPSCs during Reprogramming and Time in Culture
出版物：Cell Stem Cell 8, 106–118, January 7, 2011 ª2011 Elsevier Inc.
作者：Louise C. Laurent,1,3,4,* Igor Ulitsky,6,7 Ileana Slavin,3,4 Ha Tran,3,4 Andrew Schork,2 Robert Morey,1,3,4 Candace Lynch,3,4, Julie V. Harness,8 Sunray Lee,9 Maria J. Barrero,10,11 Sherman Ku,5 Marina Martynova,12 Ruslan Semechkin,12, Vasiliy Galat,13,14 Joel Gottesfeld,5 Juan Carlos Izpisua Belmonte,10,11 Chuck Murry,15 Hans S. Keirstead,8, Hyun-Sook Park,9 Uli Schmidt,16 Andrew L. Laslett,17,18,19 Franz-Josef Muller,3,4 Caroline M. Nievergelt,2 Ron Shamir,7, and Jeanne F. Loring3,4
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3043464/?tool=pubmed - CNV Analysis Using TaqMan Copy Number Assays
出版物：Current Protocols in Human Genetics 2.13.1-2.13.10, October 2010
作者：Ping Mayo,1 Toinette Hartshorne,2 Kelly Li,2 Chara McMunn-Gibson,1Kylee Spencer,1 and Nathalie Schnetz-Boutaud1
另请参阅：http://onlinelibrary.wiley.com/doi/10.1002/0471142905.hg0213s67/abstract;jsessionid=A422A349D5A55C71489F098AE6BBA306.d03t01 - Differential quantification of CYP2D6 gene copy number by four different quantitative real-time PCR assays
出版物：Pharmacogenetics and Genomics 2010, Vol 20 No 7 452-454
作者：Anuradha Ramamoorthya,b, David A. Flockharta,b, Naoya Hosonoc, Michiaki Kuboc, Yusuke Nakamurac,d and Todd C. Skaara - Population-specific GSTM1 copy number variation
出版物：Human Molecular Genetics, 2009, Vol. 18, No. 2 366–372
作者：R. Stephanie Huang1, Peixian Chen2, Steve Wisel1, Shiwei Duan1, Wei Zhang1, Edwin H. Cook4,
Soma Das2, Nancy J. Cox3 and M. Eileen Dolan1
另请参阅：http://hmg.oxfordjournals.org/content/18/2/366.long - Analysis of Immune Regulatory Genes' Copy Number Variants in Graves' Disease
出版物：Thyroid.January 2011, 21(1): 69-74. doi:10.1089/thy.2010.0262.
作者：Amanda K. Huber, Erlinda S. Concepcion, Alisha Gandhi, Francesca Menconi, Eric P. Smith, Mehdi Keddache, Yaron Tomer.
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012451/?tool=pubmed - Copy Number Variants of GSTM1 and GSTT1 in Relation to Lung Cancer Risk in a Prospective Cohort Study
出版物：Ann Epidemiol.2009 Aug;19(8):546-52.Epub 2009 Apr 25.
作者：TRAM KIM LAM, PhD, INGO RUCZINSKI, PhD, KATHY HELZLSOUER, MD, YIN
YAO SHUGART, PhD, KELLY E. LI, PhD, SANDRA CLIPP, MPH, PAUL T. STRICKLAND, PhD,
AND ANTHONY J. ALBERG, PhD
另请参阅：http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720160/?tool=pubmed - Effects of GSTM1 in Rheumatoid Arthritis; Results from the Swedish EIRA study.
出版物：PLoS ONE 6(3): e17880. doi:10.1371/journal.pone.0017880 (2011)
作者：Emeli Lundström1*, Toinette Hartshorne2, Kelly Li2, Staffan Lindblad1, Marius C. Wick1,3, Camilla Bengtsson4, Lars Alfredsson4, Lars Klareskog1, Leonid Padyukov1
另请参阅：http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0017880 - Origins and functional effect of copy number variation in the human genome
出版物：Nature.2010 Apr 1;464(7289):704-12.Epub 2009 Oct 7.
作者：Donald F. Conrad1*, Dalila Pinto2*, Richard Redon1,3, Lars Feuk2,4, Omer Gokumen5, Yujun Zhang1, Jan Aerts1, T. Daniel Andrews1, Chris Barnes1, Peter Campbell1, Tomas Fitzgerald1, Min Hu1, Chun HwaIhm5, Kati Kristiansson1, Daniel G. MacArthur1, Jeffrey R. MacDonald2, Ifejinelo Onyiah1, Andy Wing Chun Pang2, Sam Robson1, Kathy Stirrups1, Armand Valsesia1, Klaudia Walter1, John Wei2, Wellcome Trust Case Control Consortium, Chris Tyler-Smith1, Nigel P. Carter1, Charles Lee5, Stephen W. Scherer2,6 & Matthew E. Hurles1 - Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
出版物：Brain.2010 Jan;133(Pt 1):23-32.Epub 2009 Oct 20.
作者：de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T.
另请参阅：http://brain.oxfordjournals.org/content/133/1/23.long - Identification of de novo copy number variants associated with human disorders of sexual development.
出版物：PLoS One.2010 Oct 26;5(10):e15392.
作者：Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ.
另请参阅：http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0015392 - Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations.
出版物：PLoS One.2010 Feb 19;5(2):e9317.
作者：Tuch BB, Laborde RR, Xu X, Gu J, Chung CB, Monighetti CK, Stanley SJ, Olsen KD, Kasperbauer JL, Moore EJ, Broomer AJ, Tan R, Brzoska PM, Muller MW, Siddiqui AS, Asmann YW, Sun Y, Kuersten S, Barker MA, De La Vega FM, Smith DI.
另请参阅：http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0009317 - 新增：
- Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population.
出版物：PLoS One.2013 Jan; 8(1); e52239
作者：Nori Matsunami, Dexter Hadley, Charles H. Hensel, G. Bryce Christensen, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Jeff Stevens, Lisa Baird, Brith Otterud, Karen Ho, Tena Varvil, Tami Leppert, Christophe G. Lambert, Mark Leppert, Hakon Hakonarson. - Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
出版物：BMC Research Notes 2011, 4:476
作者：Håkan Thonberg, Marie Fallström, Jenny Björkström, Jacqueline Schoumans, Inger Nennesmo and Caroline Graff.
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