在常染色体显性遗传性多囊肾病家系中血管紧张素转换酶基因多态性作用的研究

目的研究人常染色体显性遗传性多囊肾病（ADPKD）家系与血管紧张素转换酶（ACE）基因多态性的关系。方法提取基因组DNA，利用聚合酶链反应——基因多态性分析方法对16个ADPKD家系（包括患者35人，不患病直系亲属30人）ACE基因多态性进行了分析。ADPKD患者中肾功能不全者16人，肾功能正常者19人。结果①有11个家系显示ACE基因多态性在ADPKD家系中具有遗传连锁关系，但无统计学意义（P〉0．05）。②家系中患病与不患病者ACE基因型频率差异不明显（P〉0．05）。③家系中患病与不患病者男女之间ACE基因型频率差异不明显（P〉0．05）。④家系中肾功能不全组与肾功能正常组之间DD型及D等位基因频率差异有显著性（P〈0．05）。结论①ACE基因多态性在ADPKD家系中不提供基因诊断信息。②ACE基因多态性与人ADPKD的发病无明显相关性。③ACE基因多态性与性别无明显关系。④DD型基因型是ADPKD发生肾功不全的易感因素。

Objectve To Investigate the Relationship between Insertion/Deletion(I/D)Polymorphism of ACE Gene and ADPKD Family Constellation

Objective To investigare the relationship betweeninsertion/deletion （I/D） polymorphism of ACE gene and ADPKD family constellation. Methods Polymease chain reavtion（PCR） was used to determine the ACE gene polymorphism in 16 family constellation with ADPKD（incluvcling 35 affected were analysed, anwith disease direct relstived 30） ,ACE gene polymorphism progress analyses. ADPKD aeger renal inadequacy 16,renal function common 19. Results ①The 11 family constellation dis cover. ACE gene polymorphism in ADPKD family constellation to have genetic linkage relationship, but notstatistically significant（ P 〉 0.05 ）. ②The genotype distribution was not significantly different between ADPKD and normal vontrols （P 〉 0.05 ）. ③The genotype distribution was not significantly different between man and woman （ P 〉 0.05 ）. ④The DD genotype frequency was significantly higher in ADPKD patients of cronic renal failure（ P 〈 0.05 ）. Conclusion ①The ACE gene polymorphism in ADPKD fam- ily constellation unproved gene diagnosis information. ②The ACE gene I/D polymorphism may not contribute to the happen of ADPKD. ③The gene I/D polymorphism may not contribute to the happen of ADPKD. ④The DD genotyoe of ACE may be a risk marker for the ADPKD to the renal failure stage.