论文部分内容阅读
目的探讨E-选择素基因rs3917408G/T、rs5361A/C、rs5368C/T和rs3917429C/T等4个错义突变与哈尼族原发性高血压的关系。方法采用PCR测序技术,对云南哈尼族172例原发性高血压患者和133例正常对照的E-选择素基因的rs3917408G/T、rs5361A/C、rs5368C/T和rs3917429C/T突变进行检测。结果在哈尼族原发性高血压组,rs3917408T、rs5361C、rs5368T和rs3917429T等位基因频率分别为2%、7%、28.8%和6.1%,正常对照组相应的等位基因频率分别为4%、4.9%、21.8%和1.1%,其中原发性高血压组rs3917429位点T等位基因频率显著高于正常对照组(P<0.01),其余突变点两组之间的等位基因频率比较差异均无显著性(P>0.05)。结论E-选择素基因rs3917429位点T等位基因与哈尼族原发性高血压相关。
Objective To investigate the relationship between E-selectin gene rs3917408G / T, rs5361A / C, rs5368C / T and rs3917429C / T and other four missense mutations in Hani patients with essential hypertension. Methods The rs3917408G / T, rs5361A / C, rs5368C / T and rs3917429C / T mutations of E-selectin gene in 172 essential hypertension patients and 133 normal controls were detected by PCR. Results The frequencies of rs3917408T, rs5361C, rs5368T and rs3917429T alleles were 2%, 7%, 28.8% and 6.1% respectively in Hani patients with essential hypertension. The frequencies of the corresponding alleles in the normal control group were 4% 4.9%, 21.8% and 1.1%. The allele frequency of rs3917429 in essential hypertension group was significantly higher than that in normal control group (P <0.01). The frequency of alleles in the other mutation sites was significantly different No significant (P> 0.05). Conclusion The T allele of E-selectin gene rs3917429 is associated with the Hani essential hypertension.