Multiplexed genotyping with sequence-tagged molecular inversion probes

被引：390

作者：

Hardenbol, P

Banér, J

Jain, M

Nilsson, M

Namsaraev, EA

Karlin-Neumann, GA

Fakhrai-Rad, H

Ronaghi, M

Willis, TD

Landegren, U

Davis, RW

机构：

[1] Stanford Univ, Stanford Genome Technol Ctr, Palo Alto, CA 94304 USA

[2] Rudbeck Lab, Beijer Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden

来源：

NATURE BIOTECHNOLOGY | 2003年 / 21卷 / 06期

关键词：

D O I：

10.1038/nbt821

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We report on the development of molecular inversion probe (MIP) genotyping, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis. This technique uses MIPs to produce inverted sequences, which undergo a unimolecular rearrangement and are then amplified by PCR using common primers and analyzed using universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment. Genotypes are generated with a high call rate (95%) and high accuracy (>99%) as determined by independent sequencing.

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收藏

页码：673 / 678

页数：6

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