小儿肾病综合征血管紧张素I转换酶基因多态性研究

Angiotensin I Converting Enzyme Gene Polymorphism in Children with Nephritic Syndrome

目的 探讨ACE基因第 16内含子插入 /缺失多态性与肾病综合征、血清ACE活性的关系 .方法 采用聚合酶链式反应 (PCR)检测 82例肾病综合征患儿和 38例正常儿童ACE基因并同时用酶偶联法测血清ACE活性 .结果① 82例肾病综合征患儿中ACE基因II型 ,ID型和DD型频率分别为 4 7.6 % (39/82 ) ,2 4 .4 % (2 0 /82 )和 2 8% (2 3/82 ) .对照组分别为 4 7.3% (18/38) ,2 3.7% (9/38)和 2 9% (11/38) ,肾病综合征患儿和正常儿童之间ACE基因I/D多态性频率差异无显著性意义 (p >0 .0 5 ) .② 38例正常儿童和 82例肾病综合征患儿血清ACE活性比较差异无显著性意义(p >0 .0 5 ) ,ACE各基因型中血清ACE活性差异有显著性意义 (p <0 .0 1) ,DD型 >ID型 >II型 .结论 ①小儿肾病综合征ACE基因II型 ,ID型和DD型频率分布和正常儿童差异无显著性意义 (p >0 .0 5 ) .

Objective To investigate the relationship between the insertion/deletion (I/D) polymorphism of the angiotensin I converting enzyme (ACE) gene and nephritic syndrome (NS) in children. Methods The ACE genetype of 82 children with NS and 38 healthy controls were detected by using polymerase chain reaction (PCR),Serum ACE activity was measured by enzymatic method at the same time. Results ① In the group of nephrotic syndrome,frequency of Ⅱ genetype 47.6% (39/82),ID 24.4%(20/82),DD 28%(23/82). In the group of healthy control,frequency of Ⅱ genetype 47.3%(18/38),ID 23.7%(9/38),DD 29%(11/38),Comparison of genetype distrbution showed no difference between the patient group and control proup (p>0.05).② The serum ACE activity showed no difference between the patient group and control group (p>0.05). But the serum ACE activity showed significantly difference among different genetypes within each of the two groups (p<0.01). Conclusions (1)Genetype showed no difference between the patient group and the control group. (2)A significant relationship has been found between the polymophism of ACE gene and serum ACE activity.