基于芯片的质谱基因分型
Chip-based genotyping by mass spectrometry.
作者信息
Tang K, Fu D J, Julien D, Braun A, Cantor C R, Köster H
机构信息
Sequenom Inc., 11555 Sorrento Valley Road, San Diego, CA 92121, USA.
出版信息
Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10016-20. doi: 10.1073/pnas.96.18.10016.
Abstract
Silicon chips with immobilized target DNAs were used for accurate genotyping by mass spectrometry. Genomic DNAs were amplified with PCR, and the amplified products were covalently attached to chip wells via N-succinimidyl (4-iodoacetyl)aminobenzoate (SIAB) chemistry. Primer annealing, extension, and termination were performed on a 1-microl scale directly in the chip wells in parallel. Diagnostic products thus generated were detected in situ by using matrix-assisted laser desorption ionization mass spectrometry. This miniaturized method has the potential for accurate, high-throughput, low-cost identification of genetic variations.
摘要
带有固定化靶DNA的硅芯片被用于通过质谱进行精确的基因分型。基因组DNA通过PCR进行扩增，扩增产物通过N-琥珀酰亚胺基（4-碘乙酰基）氨基苯甲酸酯（SIAB）化学方法共价连接到芯片孔中。引物退火、延伸和终止在芯片孔中直接以1微升规模并行进行。由此产生的诊断产物通过基质辅助激光解吸电离质谱进行原位检测。这种小型化方法具有精确、高通量、低成本鉴定基因变异的潜力。
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本文引用的文献
1
High-density, covalent attachment of DNA to silicon wafers for analysis by maldi-tof mass spectrometry.用于基质辅助激光解吸电离飞行时间质谱分析的DNA与硅片的高密度共价连接。
Anal Chem. 1997 Jul 1;69(13):2438-43. doi: 10.1021/ac961007v.
2
New goals for the U.S. Human Genome Project: 1998-2003.美国人类基因组计划的新目标：1998 - 2003年。
Science. 1998 Oct 23;282(5389):682-9. doi: 10.1126/science.282.5389.682.
3
A strategy for rapid and efficient DNA sequencing by mass spectrometry.一种通过质谱法进行快速高效DNA测序的策略。
Nat Biotechnol. 1996 Sep;14(9):1123-8. doi: 10.1038/nbt0996-1123.
4
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.人类基因组中单核苷酸多态性的大规模鉴定、定位及基因分型
Science. 1998 May 15;280(5366):1077-82. doi: 10.1126/science.280.5366.1077.
5
Sequencing exons 5 to 8 of the p53 gene by MALDI-TOF mass spectrometry.通过基质辅助激光解吸电离飞行时间质谱法对p53基因的第5至8外显子进行测序。
Nat Biotechnol. 1998 Apr;16(4):381-4. doi: 10.1038/nbt0498-381.
6
Improved analysis of microsatellites using mass spectrometry.利用质谱法对微卫星进行改进分析。
Genomics. 1997 Nov 15;46(1):18-23. doi: 10.1006/geno.1997.5011.
7
Mass spectrometry from miniaturized arrays for full comparative DNA analysis.用于全比较DNA分析的小型阵列质谱分析
Nat Med. 1997 Dec;3(12):1413-6. doi: 10.1038/nm1297-1413.
8
Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry.利用引物寡核苷酸碱基延伸和质谱法检测CFTR基因突变。
Clin Chem. 1997 Jul;43(7):1151-8.
9
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis.使用高密度寡核苷酸阵列和双色荧光分析检测BRCA1中的杂合突变。
Nat Genet. 1996 Dec;14(4):441-7. doi: 10.1038/ng1296-441.
10
Accessing genetic information with high-density DNA arrays.使用高密度DNA阵列获取遗传信息。
Science. 1996 Oct 25;274(5287):610-4. doi: 10.1126/science.274.5287.610.
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