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中文摘要：
首先选择139个牛SNP标记,利用DNA池测序法,根据测序峰图中不同碱基信号峰高的比值确定了92个SNP为高信息量标记（比值＞1/2）;为了进一步验证筛选的准确性,对其中59个标记采用基质辅助激光解析电离飞行时间质谱（Matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry,MALDI-TOF MS）技术检测了122头荷斯坦牛的基因型.结果显示,检出率高于85％的标记有56个,其平均最小等位基因频率（Minor allele frequency,MAF）为0.41,最小值为0.27,最大值为0.5; MAF＞0.3的标记有54个,占96.4％（54/56）.文章结果表明,采用DNA池测序法筛选高信息量SNP标记是可行和可信的.
英文摘要：
In this study, 139 bovine single nuclear polymorphisms （SNPs） were firstly selected and then directly sequenced using DNA pooling. Based on the ratio of two signal peak values, 92 SNPs with the ratio over 1/2 were considered as potential highly informative markers. To further verify the reliability of screening system, 59 SNP markers were genotyped in 122 Holstein cattle using matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry （MALDI-TOF MS） method. The results showed that 56 SNPs had a call rate higher than 85%. The minor allele frequency （MAF） of these 56 markers ranged from 0.27 to 0.5, with an average of 0.41; and in which 54 markers had a MAF over 0.3, covering 96.4% of this group of markers （54/56）. Our findings indicate that direct sequencing of DNA pooling is a useful and efficient tool for identifying highly informative SNPs.
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