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Identification of mutant DNA sequences fast and accurate by electrospray mass spectrometry

机译:通过电喷雾质谱快速,准确地鉴定突变DNA序列

摘要

A method of detecting a polymorphism at a polymorphic site in the genome of an individual is described. The method involves amplifying a portion of a genomic DNA sample by polymerase chain reaction to produce an amplified segment that contains the polymorphic site, desalting the amplified segment, and determining the mass of the amplified segment by electrospray ionization mass spectrometry. Comparison of the mass of the amplified segment to a reference mass permits detection of the presence or absence of the polymorphism. Methods for heterozygosity and disease inheritance by mass spectrometry are also described. The figure shows the molecular weight transform spectrum obtained from the mass-to-charge spectrum of a 53-base oligonucleotide.
机译:描述了一种检测个体基因组中多态性位点的多态性的方法。该方法包括通过聚合酶链反应扩增基因组DNA样品的一部分以产生包含多态性位点的扩增片段,使扩增片段脱盐,并通过电喷雾电离质谱法确定扩增片段的质量。将扩增的片段的质量与参考质量进行比较允许检测多态性的存在或不存在。还描述了通过质谱用于杂合性和疾病遗传的方法。该图显示了从53个碱基的寡核苷酸的质荷谱获得的分子量变换谱。

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