青海高原先天性心脏病儿童血管紧张素转换酶基因多态性研究

Study of Angiotensin Converting Enzyme Gene Polymorphism in Children with Congenital Heart Disease at High Altitude

目的:通过对青海高原先天性心脏病(CHD)患儿血管紧张素转换酶基因多态性的分析,探讨血管紧张素转换酶基因插入/缺失(I/D)多态性与高原先天性心脏病的关系。方法:应用聚合酶链式反应法(PCR),对36例高原先天性心脏病患儿和40例非先天性心脏病的高原健康儿童进行血管紧张素转换酶基因插入/缺失(I/D)多态性的研究。结果:先天性心脏病患儿DD基因型17例,占47.22%;DI基因型16例,占44.44%;II基因型3例,占8.33%。非先天性心脏病儿童DD基因型9例,占22.50%;DI基因型17例,占42.50%;II基因型14例,占35.00%。结论:高原先天性心脏病与血管紧张素转换酶基因多态性有密切关系,DD基因型高原先天性心脏病发病相对危险高,II基因型高原先天性心脏病发病相对危险低,DD基因型可能是高原先天性心脏病的易感基因型,D等位基因可能是高原先天性心脏病的易感基因。

Objective：To investigate the relationship between the insertion/deletion（I/D） polymorphism of the angiotensin converting enzyme（ACE） gene and congenital heart disease（CHD） at high altitude and to quest the predisposing gene of CHD by analyzing the polymorphism of the ACE gene in patients with CHD.Methods：Thirty-six patients with CHD were served as CHD group,Forty patients without CHD as control group.We drew DNA of leukocyte from blood by the method of saturation phenol and chloroform,and we amplified the ACE gene using the DNA polymerase chain reaction technique.The amplification products were employed electrohoresis in 2 % sepharose.The polymorphism of the angiotensin converting enzyme gene was analyzed under ultraviolet lump.Results：In the CHD group,the genotype distribution frequency of the ACE was DD in 17（47.22 %）,in ID 16（44.44 %） and II in 3（8.33 %）,and in the control group,it was in DD 9（22.50 %）,in ID 17（42.50 %） and II in 14（35.00 %）.Conclusions：The study result clarifies that CHD has close correlation to the polymorphism of the angiotensin converting enzyme gene.The relative risk of DD genotype is higher than that of the others,and DD genotype possibly is the predisposing genotype of CHD;D allele perhaps is the susceptibility gene of CHD.