高分辨熔解曲线检测潮汕地区自发性深部脑出血患者载脂蛋白H基因多态性

Investigation of apolipoprotein H gene polymorphism in spontaneous deep cerebral hemorrhage patients in Chaoshan area by high-resolution melting assay

目的:探讨潮汕人群中载脂蛋白H基因(apolipoprotein H,Apo H)多态性与自发性深部脑出血的关系。方法:采用病例对照研究,研究组收集2012年3月至2013年12月在潮州市中心医院和2017年1月至2018年6月在揭阳市人民医院住院治疗的自发性深部脑出血患者340例,对照组选取性别、年龄与研究组相匹配的轻度外伤患者257 例。应用高分辨熔解曲线分析法(high-resolution melting assay,HRM)检测Apo H基因型并测序验证。结果:所有患者的Apo H基因rs4581位点由HRM法成功检测,并且HRM检测结果与基因测序结果一致。与对照组比较,自发性深部脑出血患者Apo H 基因6个SNP位点(rs8178822、rs52797880、rs8178847、rs4581、rs1801690 和rs6933)的基因型及等位基因频率差异无统计学意义(P>0.05)。结论:HRM法能广泛运用于SNP基因多态性研究。潮汕地区自发性深部脑出血与Apo H基因多态性无关。

Objective: To explore the relationship between apolipoprotein H (Apo H) polymorphism and spontaneous deep cerebral hemorrhage in Chaoshan population. Methods: Using a case- control study, the study group collected 340 patients with spontaneous deep cerebral hemorrhage who were hospitalized in Chaozhou Central Hospital from March 2012 to December 2013 and from January 2017 to June 2018 in Jieyang People's Hospital and the control group selected 257 patients with mild trauma who matched the gender and age of the study group. The Apo H genotype was detected by high-resolution melting assay (HRM) and verified by sequencing. Results:All patients' Apo H rs4581 were successfully detected by the HRM method,and the HRM test results were consistent with the gene sequencing results. Compared with the control group, there were no significant differences in genotype and allele frequencies between the six SNPs (rs8178822, rs52797880,rs8178847,rs4581,rs1801690 and rs6933) of Apo H gene in patients with spontaneous deep cerebral hemorrhage (P>0.05). Conclusion:HRM method can be widely used in SNP gene polymorphism research. There was no correlation between Apo H gene polymorphism and spontaneous deep cerebral hemorrhage in Chaoshan area.