E-选择素基因多态性与新疆哈萨克族原发性高血压的相关性研究

目的探讨E-选择素（E-selectin）基因第2外显子＋G98T和第4外显子＋A561C位点单核苷酸多态性在新疆哈萨克族人群中的分布，并分析E-selectin基因多态性与原发性高血压的相关性。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）的分析方法，检测了新疆哈萨克族人群无血缘关系的150例原发性高血压患者和150名对照者E-selectin基因＋G98T位点及＋A561C位点多态性，同时用生化分析仪检测相关生化指标。结果①新疆哈萨克族人群中E-selectin基因＋G98T多态性位点存在GG、GT二种基因型，其中以GG基因型发生频率最高（91．3％），GT基因型频率次之（8．7％）；同时也存在AA、AC二种基因型，其中以AA基因型发生频率最高（88．0％），AC基因型频率次之（12．0％）；②E-selectinAc基因型在高血压组和对照组间的分布差异存在显著性（X2=5．31，P〈0．025）。结论新疆哈萨克族人群中存在E-selectin＋G98T和＋A561C两位点单核苷酸多态性，其中A561C基因多态性与原发性高血压具有相关性，C等位基因可能是新疆哈萨克族原发性高血压发病的遗传易感基因。

Correlation of E-selectin gene polymorphisms in Xinjiang Kazak people with essential hypertension

Objective To study the correlation of the ＋ G98T polymorphism in the exon2 and the ＋ A561C polymorphisms in the exon 4 of E-selectin gene in Xinjiang Kazak people and the association with essential hypertension （EH）. Methods Polymerase Chain Reaction-Restriction Fragment Length Polymorphism （PCR-RFLP） method was used to determine ＋ G98T and S128R loeus mutation. Polymorphisms in E-selectin gene in 150 EH Patients and 150 controls. Automated Biochemieal Analyzer was used to measure the clinical biochemistry datas. Results ①Two genotypes AA and AC of E-selectin A.561C polymorphisms, GG and GT genotypes of E-selectin G98T polymorphisms were found in Xinjiang Kazak people. ②There was significant difference in frequencies of genotype in E-selectin A561C polymorphisms between essential hypertension and control group P 〈 0.05. Conclusions E-selectin A561C amd G98T polymorphism exists in Xinjiang Kazak people. There is a correlation between E-selectin A561C polymorphism in Xinjiang Kazak people with essential hypertension. C Allele may be one of predisposing factor of Xinjiang Kazak people with essential hypertension.