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通过基质辅助激光解吸/电离飞行时间质谱法对单核苷酸多态性进行基因分型。

Genotyping single-nucleotide polymorphisms by matrix-assisted laser-desorption/ionization time-of-flight mass spectrometry.

作者信息

Sauer Sascha, Gut Ivo G

机构信息

Max-Planck-Institut für Molekulare Genetik, Abteilung Lehrach, Ihnestrasse 73, 14195 Berlin-Dahlem, Germany.

出版信息

J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Dec 25;782(1-2):73-87. doi: 10.1016/s1570-0232(02)00692-x.

Abstract

In recent years matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI) has emerged as a very powerful method for genotyping single nucleotide polymorphisms. The accuracy, speed of data accumulation, and data structure are the major features of MALDI. Several SNP genotyping methods have been implemented with a high degree of automation and are being applied for large-scale association studies. Most methods for SNP genotyping using MALDI mass spectrometric detection and their potential application for high-throughput are reviewed here.

摘要

近年来,基质辅助激光解吸/电离飞行时间质谱(MALDI)已成为一种用于单核苷酸多态性基因分型的非常强大的方法。MALDI的主要特点是准确性、数据积累速度和数据结构。几种单核苷酸多态性基因分型方法已经实现了高度自动化,并正在应用于大规模关联研究。本文综述了大多数使用MALDI质谱检测的单核苷酸多态性基因分型方法及其在高通量方面的潜在应用。

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