目的　肾素基因错义突变与原发性高血压的相关性。方法　运用聚合酶链反应 限制性片段长度多态性(PCR RFLP)确定外显子9上的引起氨基酸置换的突变(错义突变)G10 5 1A的基因型;在日本人2 12例原发性高血压(EH)者和2 0 9例正常血压(NT)者中进行病例对照研究。结果　PCR- RFLP确定基因型后结果显示G10 5 1A的G等位基因频率原发性高血压组显著高于正常血压组(P <0 .0 5 )。基因型G/G的血浆肾素活性明显高于A/A和G/A。结论　外显子9上错义突变G10 5 1A可能影响肾素的酶活性,从而与原发性高血压有相关性. Objective Renin gene missense mutation associated with essential hypertension. Methods PCR-RFLP was used to determine the genotype of G10 5 1A mutation causing amino acid substitution (missense mutation) in exon 9. In Japanese, 12 12 cases of primary A case-control study was performed in hypertensive (EH) and 209 normotensive patients (NT). Results The result of PCR-RFLP confirming the genotype showed that G10 5 1A G allele frequency of essential hypertension group was significantly higher than that of normotensive group (P <0.05). Genotype G / G plasma renin activity was significantly higher than A / A and G / A. Conclusion The missense mutation G10 5 1A in exon 9 may affect renin enzyme activity and thus be associated with essential hypertension.