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多重扩增定量 (MAQ),一种快速高效的同时检测神经母细胞瘤拷贝数改变的方法。

Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma.

机构信息

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

出版信息

BMC Genomics. 2010 May 12;11:298. doi: 10.1186/1471-2164-11-298.

DOI:10.1186/1471-2164-11-298
PMID:20459859
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2879279/
Abstract

BACKGROUND

Cancer genomes display characteristic patterns of chromosomal imbalances, often with diagnostic and prognostic relevance. Therefore assays for genome-wide copy number screening and simultaneous detection of copy number alterations in specific chromosomal regions are of increasing importance in the diagnostic work-up of tumors.

RESULTS

We tested the performance of Multiplex Amplicon Quantification, a newly developed low-cost, closed-tube and high-throughput PCR-based technique for detection of copy number alterations in regions with prognostic relevance for neuroblastoma. Comparison with array CGH and the established Multiplex Ligation-dependent Probe Amplification method on 52 neuroblastoma tumors showed that Multiplex Amplicon Quantification can reliably detect the important genomic aberrations.

CONCLUSION

Multiplex Amplicon Quantification is a low-cost and high-throughput PCR-based technique that can reliably detect copy number alterations in regions with prognostic relevance for neuroblastoma.

摘要

背景

癌症基因组显示出特征性的染色体失衡模式,通常具有诊断和预后意义。因此,用于全基因组拷贝数筛选以及特定染色体区域拷贝数改变的同时检测的检测方法在肿瘤的诊断中变得越来越重要。

结果

我们测试了 Multiplex Amplicon Quantification 的性能,Multiplex Amplicon Quantification 是一种新开发的低成本、封闭管和高通量基于 PCR 的技术,用于检测神经母细胞瘤中具有预后相关性的区域的拷贝数改变。与 array CGH 和已建立的 Multiplex Ligation-dependent Probe Amplification 方法在 52 个神经母细胞瘤肿瘤上的比较表明,Multiplex Amplicon Quantification 可以可靠地检测到重要的基因组异常。

结论

Multiplex Amplicon Quantification 是一种低成本、高通量的基于 PCR 的技术,可可靠地检测神经母细胞瘤中具有预后相关性的区域的拷贝数改变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8238/2879279/333e67dd16eb/1471-2164-11-298-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8238/2879279/41cf0e6c89e2/1471-2164-11-298-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8238/2879279/333e67dd16eb/1471-2164-11-298-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8238/2879279/41cf0e6c89e2/1471-2164-11-298-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8238/2879279/333e67dd16eb/1471-2164-11-298-2.jpg

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本文引用的文献

1
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BMC Genomics. 2009 Aug 26;10:401. doi: 10.1186/1471-2164-10-401.
2
The emerging molecular pathogenesis of neuroblastoma: implications for improved risk assessment and targeted therapy.神经母细胞瘤的新兴分子发病机制:对改善风险评估和靶向治疗的启示。
Genome Med. 2009 Jul 27;1(7):74. doi: 10.1186/gm74.
3
International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee.
一个中国汉族非综合征性眼皮肤白化病患者的 OCA2 基因中新型复合杂合突变:病例报告。
BMC Med Genet. 2019 Jul 25;20(1):130. doi: 10.1186/s12881-019-0850-7.
4
A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.全胚系 BRCA2 基因缺失:如何从 CNV 计算机分析中吸取教训。
Int J Mol Sci. 2018 Mar 23;19(4):961. doi: 10.3390/ijms19040961.
5
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.在一大群遗传疾病患者中通过外显子组测序检测临床相关的拷贝数变异
Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.
6
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.一项关于与额颞叶变性相关的 C9orf72 重复序列的泛欧研究:地理流行率、基因组不稳定性和中间重复序列。
Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4.
7
Applying microsatellite multiplex PCR analysis (MMPA) for determining allele copy-number status and percentage of normal cells within tumors.应用微卫星多重 PCR 分析 (MMPA) 确定肿瘤内等位基因拷贝数状态和正常细胞的百分比。
PLoS One. 2012;7(8):e42682. doi: 10.1371/journal.pone.0042682. Epub 2012 Aug 15.
8
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Mol Psychiatry. 2012 Feb;17(2):223-33. doi: 10.1038/mp.2011.24. Epub 2011 Mar 15.
9
Genome structural variation discovery and genotyping.基因组结构变异发现与基因分型。
Nat Rev Genet. 2011 May;12(5):363-76. doi: 10.1038/nrg2958. Epub 2011 Mar 1.
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4
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J Clin Oncol. 2009 Mar 1;27(7):1026-33. doi: 10.1200/JCO.2008.16.0630. Epub 2009 Jan 26.
5
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Hum Mutat. 2009 Mar;30(3):472-6. doi: 10.1002/humu.20873.
6
The array CGH and its clinical applications.比较基因组杂交阵列及其临床应用。
Drug Discov Today. 2008 Sep;13(17-18):760-70. doi: 10.1016/j.drudis.2008.06.007. Epub 2008 Jul 17.
7
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8
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9
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Semin Radiat Oncol. 2008 Apr;18(2):98-104. doi: 10.1016/j.semradonc.2007.10.005.
10
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Genes Chromosomes Cancer. 2007 Dec;46(12):1098-108. doi: 10.1002/gcc.20496.