基质辅助激光解吸/离子化飞行时间质谱分析多态性遗传标记  

Analysis of polymorphic markers by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

作　　者：唐剑频[1] 侯一平[1] 

机构地区：[1]四川大学华西基础医学与法医学院

出　　处：《中华医学遗传学杂志》2005年第2期185-188,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(30271446);教育部科技基础平台项目(505015)~~

摘　　要：随着人类基因组测序工作的完成,多态性遗传标记及其检测手段日益受到重视。基质辅助激光解吸/离子化飞行时间质谱作为一种高通量的单核苷酸多态性分型技术受到关注,它不仅可以分析单核苷酸多态性,还可以进行微测序、分析短串联重复序列。目前的分析方法有:引物延伸法、连接酶反应法、肽核酸法、侵入法等。With the development of genomics and the accomplishments of human genomic sequencing, polymorphic markers and their analytic approaches are more and more important, and much attention has been paid to the fact that the analysis of single nucleotide polymorphisms utilizing matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF MS) is a high-throughput approach. MALDI-TOF MS can also mini-sequence and genotype short tandem repeat. The approaches to analyzing single nucleotide polymorphisms are primer oligonucleotide base extension, ligase reaction, peptide nucleotide acid, invader assay, and so on.

关 键 词：基质辅助激光解吸 多态性遗传标记 离子化 质谱分析 单核苷酸多态性 短串联重复序列 飞行时间质谱 人类基因组 测序工作 检测手段 分型技术 引物延伸 高通量 反应法 连接酶 肽核酸 

分 类 号：Q3-3[生物学—遗传学]