先天性心脏病患儿的血管紧张素转换酶基因多态性研究

目的对先天性心脏病(CHD)患儿血管紧张素转换酶(ACE)基因多态性的分析,探讨ACE基因插入/缺失(I/D)多态性与CHD的关系,寻找与CHD发病有关的易感基因。方法68例CHD患儿为观察组,64例非CHD患儿为对照组。应用饱和酚-氯仿法提取白细胞DNA,应用PCR技术对标本ACE基因进行扩增,扩增产物采用2%琼脂糖凝胶电泳,在紫外光下根据迁移率判定ACE不同基因型。结果观察组ACE基因为插入纯合型(II)12例,占17.65%;缺失纯合型(DD)32例,占47.06%;杂合子(ID)24例,占35.29%。对照组ACE基因为20例,占31.25%;DD型10例,占15.63%;ID 34例,占53.12%。结论CHD发病与ACE基因多态性有密切相关性,DD基因型发病相对危险度高,DD基因型可能为CHD易患基因型,D等位基因可能为CHD易感基因。

Study on Angiotensin Converting Enzyme Gene Polymorphism in Children with Congenital Heart Disease

Objective To investigate the relationship between the insertion/deletion(I/D) polymorphism of the angiotensin convcer-(ting) enzyme(ACE) gene and congenital heart disease(CHD) and to quest the predisposing gene of congenital heart disease by analyzing the polymorphism of the ACE gene in patients with CHD.Methods Sixty-eight patients with CHD were served as observing group,sixty-four 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 obser-(ving) group,the genotype distribution frequency of the ACE was II in 12(17.65%),DD in 32(47.06%) and ID in 24(35.29%),and in the control group,it was II in 20(31.25%),DD in 10(15.63%) and ID in 34(53.12%).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.