血管紧张素原基因与黎族原发性高血压并脑梗死相关性

目的 研究血管紧张素原（AGT）基因四个位点的单核苷酸多态及其构成的单倍型与海南黎族原发性高血压并脑梗死的相关性.方法 选择海南黎族人群为研究对象,利用PCR-直接测序法,在100例原发性高血压并脑梗死患者和100例健康对照者中,对AGT基因启动子区域的G-152A,A-20C,C-18T,A-6G多态进行基因分型.结果原发性高血压并脑梗死组与健康对照组相比,C-18T多态的基因型和等位基因频率分布差异均有显著性（P=0.002,P=0.002）.A-6G多态的G等位基因频率在原发性高血压并脑梗死组显著高于对照组（P=0.016）.单倍型分析提示由-20C和-6G构成的H6单倍型在原发性高血压并脑梗死组中明显增加,与对照组相比有显著性差异（P=0.003）.结论 在海南黎族人群中,A-20C,C-18T,A-6G多态可能是原发性高血压并脑梗死发病的遗传危险因素.

Relationship between aniotersinogen gene polyinorphism and primary hypertension complicated with cerebral infarction in Hainan Li ethnic groups

Objective To analyze the relationship between four single nucleotide polymorphisms(SNPs)and their haplotypes of angiotensinogen(AGT)Gene and primary hypertension complicated with cerebral infarction in Li ethnic groups of Hainan Province.Methods The genotypes in 100 primary hypertension patients complicated with cerebral infarction and 100 healthy controls were determined by the method of PCR-sequencing using four AGT gene polymorphisms at position-152(G/A),-20(A/G),-18(C/T)and-6(A/G)in the promoter region.Results The frequencies of CT genotype of AGT-18 and T allele were significantly higher in primary hypertension patients complicated with cerebral infarction than that of healthy controls.The frequencies of G allele of AGT-6 was significantly higher in essential hypertension complicated with cerebral infarction than that of healthy controls.Haplotype analysis revealed that H6 Haplotype frequency,which included-20C and 6G,was significantly increased in the group of primary hypertension patients complicated with cerebral infarction(P=0.003).Conclusion A-20C,C-18T,A-6G might be genetic risk factors for primary hypertension patients complicated with cerebral infarction in Hainan Li ethnic groups.