DNA-pool全基因组高通量重测序分析原发性高血压单核苷酸多态性变异

目的利用DNA-pool技术对原发性高血压患者进行测序,探索中国原发性高血压患者单核苷酸多态性变异(SNP)情况。方法连续收集2014年3月至2014年6月深圳市孙逸仙心血管医院的高血压门诊患者100例。将基因组DNA片段化处理至400~800bp进行建库测序,将测序结果与NCBI(National Center of Biotechnology Information)人类基因库hg19进行比对。结果共生成120.8Gb原始序列数据,测序深度约为36.13倍,覆盖率达到了99.88%。通过生物信息学分析共检测到4 305 668个SNP点,其中C:G→T:A的变异类型最多,达到12 314个变异位点。结论研究验证了使用DNA-pool的全基因组重排序的方法。研究所得数据也对中国原发性高血压的基因型数据库进行了补充,对未来原发性高血压基因研究提供了一定的帮助。

DNA-pool high-throughput whole genome resequencing for exploring essential hypertension single nucleotide polymorphism mutation

Objective To use the DNA-pool technology to sequence patients with essential hypertension(EH) for exploring the single nucleotide polymorphism(SNP) mutation situation in Chinese patients with EH.Methods One hundred EH outpatients in the Shenzhen Sun Yat-sen Cardiovascular Hospital from March to June 2014 were continuously collected.The genomic DNA was performed the fragmentation process to 400-800 bp for conducting the database creation and sequencing.The sequencing results were compared with hg19 in the human gene bank(National Center of Biotechnology Information).Results A total of 120.8 Gb original sequence data were generated.The sequencing depth was 36.13 times,the coverage rate reached 99.88%.A total of 4 305 668 SNP loci were detected by the bioinformatic analysis,in which the C:G→T:A motation types were miximal,reaching 12 314 variation sites.Conclusion This study verifies that the data obtained by using the DNA-pool whole genome resequencing method replenishes the Chinese gene database of EH and provides some help for EH gene reasearch in the future.