| Objective: The purpose of this study is to investigate the relationship between the insertion/deletion (I/D) polymorphism of the angiotensin- concerting enzyme (ACE) gene and congenital heat disease and to ques the predisposing gene of congenital heart disease by analyzing the polymorphism of the ACE gene of the patients of congenital heart disease. So that we can intervene earlier and reduce the incidence of congenital heart disease. Methods: The method of experiment is as following: Thirty-four patients with congenital heart disease serve as observing group, thirty-six patients without congenital heart disease serve as control group. We draw fresh blood with EDTA anticoagulant of two millilitre from every patients. First we draw DNA of leukocyte from blood by the method with saturation phenol and chloroform second we amplificate the ACE gene using the DNA polymerase chain reaction technic employing the primer gene designed by Rigat. Third: the amplification products were employed electrohoresis in 2% sepharose. Last, we analysis the polymorphism of the angiotensin converting enzyme gene by the Test kit of detecting polymorphism of the angiotensin converting enzyme gene. Result: The result of the experiment is as following, the genotype distribution frequency of the ACE is different in the observing group II in 8 (17.65%), DD in 16 (47.06%) and DI in 16 (47.06%) and DI in 12 (35.29%) and in the control group, II in 11 (30.53%), DD in 6 (16.67%) VI in 19 (52.78%), Analyzed by statistical method we find the significant association between the ACE genotype and congenital heart disease. Comparing DD genotype distribution frequency is 47.06%, higher than control group the difference his statistical significance (chi-square 7.1824 P<0.01). The distribution frequency of the D allele in the observing group is 64.7%, higher than that of the control group (43.06%). This show that D allele perhaps is the susceptibility gene of congenital heart disease. By comparing the relative risk of three kinds of genotype, we find that the relative risk of DD 4.44 is higher than those of other two which support the idea that DD genotype is susceptibility gene. Conclusion: Our study result clarify that congenital heart disease has close correlation to the polymorphism of the angiotensin converting enzyme gene. The relative risk of DD genotype is higher than these of the others, DD genotype possibly is the predisposing genotype of congenital heart disease. Dallele perhaps is the susceptibility gene of congenital heart disease. Congenital heart disease is a common disease in pediatric cardiology department. It is a cardiovascular malformation which is formed by the heart and vessels abnormal development during the embryo developing. Recently in terms of studying of studying the reason of congenital heart disease, magnificent development has been made. The cardio vascular malformation mainly results from the action of heredity and circumstances as well as the action of each other with the development of molecular biology and genetics, the study on congenital heart disease is deep into the level of gene. Up to now, of all kinds of the congenital heart disease, the number of resulting from gene mutation and chromosome abnormal is up to 15%. In the embryo developing hypoxia is the main reason which results to congenital heart disease. Recently somebody has studied that that the activity of ACE which effects the vasomotor function is mostly controlled by the polymorphism of angiotensin converting enzyme gene. At the same time, abroad scholars enzyme gene can affect the blood flow in metro-placenta and nave, RI of uterin artery of patient of DD genotype is higher than of those of other two genotypes. Which makes blood flow of metro-placenta reduce, and umbilical blood flow reduce relatively, which leads to blood supply of embryo deficient, at last, make the risk of asphyxia increase largely. This study shows that if we can find the measures to intervene in the occurrence of congenital heart diseas... |
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