ACE基因多态性与ADPKD的关系

Relationship between angiotensin converting enzyme gene polymorphism and autosomal dominant polycystic kidney disease

目的 探讨血管紧张素 I转换酶基因 (ACE基因 )插入 /缺失 (I/D)多态性与常染色体显性遗传性多囊肾病(ADPKD)之间的关系。方法 应用聚合酶链式反应 (PCR)方法对 6 2例ADPKD患者和 96例健康对照者ACE基因多态性进行了分析。结果 ADPKD患者与健康对照组之间ACE基因型频率差异不明显 ;ADPKD肾功能不全组与健康对照组之间DD型及D等位基因频率差异有显著性。结论 ACE基因多态性与中国人ADPKD的发病无明显相关性。

Objective To investigate the relationship between insertion/deletion(I/D) polymorphism of angiotension converting enzyme(ACE) gene and autosomal dominant polycystic kidney disease(ADPKD).Methods Polymerase chain reaction(PCR) was used to determine the ACE gene polymorphism in 62 patients with ADPKD and 96 healthy subjects as controls.Results The genotype distribution was not significantly different between ADPKD and normal controls.The DD genotype frequency was significantly higher in ADPKD patients of chronic renal failure.Conclusion The ACE gene I/D polymorphism may not contribute to the happen of ADPKD;The DD genotype of ACE may be a risk marker for the ADPKD to the renal failure stage.