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

VernacularTitle: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
Author: Wenbo CUI ; Yinhe LIU ; Yiwen ZHOU
Keywords: essential hypertension; whole-genome re-sequencing; SNP; DNA-pool
From: International Journal of Laboratory Medicine 2017;38(9):1172-1175
CountryChina
Language:Chinese
Abstract: 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.