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
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摘要
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.
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.
引文
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[15]魏二佳,黄谷,陈琦,等.自发性深部幕上脑出血患者继发脑水肿体积与水通道蛋白4及活性氧簇关系的研究[J].中华神经医学杂志,2018,17(12):1250-1254.
[16]KAO J T,TSAI K S,CHANG C J,et al.The effects of apolipoprotein E polymorphism on the distribution of lipids and lipoproteins in the Chinese population[J].Atherosclerosis,1995,114(1):55-59.
[2]夏健,杨期东,杨期明,等.载脂蛋白H基因多态性与脑卒中的相关性研究[J].中华医学杂志,2003,83(7):537-540.
[3]李培生,黄泽伟,詹小芬,等.高分辨熔解曲线检测潮汕汉族人群的载脂蛋白E基因多态性[J].分子诊断与治疗杂志,2014,6(2):83-87.
[4]章晓英,宋水江,迟淑梅,等.血清AQP4水平与脑出血周围水肿体积相关性的研究[J].浙江医学,2017,39(13):1094-1096.
[5]FALCONE G J,MALIK R,DICHGANS M,et al.Current concepts and clinical applications of stroke genetics[J].Lancet Neurol,2014,13(4):405-418.
[6]刘洋,刘秀,陈旭义,等.自发性脑出血的遗传因素及其分子机制的研究进展[J].天津医药,2015,43(7):818-821.
[7]SAVER J L,WARACH S,JANIS S,et al.Standardizing the structure of stroke clinical and epidemiologic research data:the National Institute of Neurological Disorders and Stroke(NINDS)Stroke Common Data Element(CDE)project[J].Stroke,2012,43(4):967-973.
[8]MARTINI S R,FLAHERTY M L,BROWN W M,et al.Risk factors for intracerebral hemorrhage differ according to hemorrhage location[J].Neurology,2012,79(23):2275-2282.
[9]LUNARDI P.Lobar hemorrhages[J].Front Neurol Neurosci,2012,30:145-148.
[10]魏二佳,杨立业,陈文延,等.潮汕人群自发性深部脑出血与载脂蛋白E基因多态性的关系[J].中国微侵袭神经外科杂志,2017,22(1):27-31.
[11]XIA J,YANG Q D,YANG Q M,et al.Apolipoprotein H gene polymorphisms and risk of primary cerebral hemorrhage in a Chinese population[J].Cerebrovasc Dis,2004,17(2/3):197-203.
[12]SEIFERT T,LECHNER A,FLOOH E,et al.Lack of association of lobar intracerebral hemorrhage with apolipoprotein E genotype in an unselected population[J].Cerebrovasc Dis,2006,21(4):266-270.
[13]RATHER H A,DIN M M,SHEIKH A A,et al.RPC-RFLP based genotyping of Indian isolates of Toxoplasma gondii[J].J Parasit Dis,2017,41(2):551-556.
[14]SANGHERA D K,KRISTENSEN T,HAMMAN RF,et al.Molecular basis of the apolipoprotein H(beta-2-glycoprotein I)protein polymorphism[J].Hum Genet,1997,100(1):57-62.
[15]魏二佳,黄谷,陈琦,等.自发性深部幕上脑出血患者继发脑水肿体积与水通道蛋白4及活性氧簇关系的研究[J].中华神经医学杂志,2018,17(12):1250-1254.
[16]KAO J T,TSAI K S,CHANG C J,et al.The effects of apolipoprotein E polymorphism on the distribution of lipids and lipoproteins in the Chinese population[J].Atherosclerosis,1995,114(1):55-59.