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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 polymorphism of angiotensin converting enzyme (ACE) gene in children with congenital heart disease (CHD) in Qinghai Plateau to explore the association of angiotensin converting enzyme gene insertion / deletion (I / D) polymorphism and plateau congenital heart The relationship between the sick. Methods: Polymerase chain reaction (PCR) was used to detect the gene insertion / deletion of angiotensin converting enzyme (ACE) gene in 36 children with plateau congenital heart disease and 40 children with plateau healthy non - congenital heart disease. Polymorphism research. Results: DD genotype in children with congenital heart disease was 17 (47.22%), DI genotype was 16 (44.44%) and genotype II was 8.33%. DD genotypes of non-congenital heart disease in 9 cases, accounting for 22.50%; DI genotype in 17 cases, accounting for 42.50%; II genotype in 14 cases, accounting for 35.00%. Conclusion: The plateau congenital heart disease is closely related to the gene polymorphism of angiotensin converting enzyme, the relative risk of congenital heart disease is high in DD genotype, the relative risk of congenital heart disease in genotype II is low, DD genotype May be a susceptible genotype of plateau congenital heart disease, D allele may be a susceptibility gene for plateau congenital heart disease.