摘要 目的：探讨血管紧张素转换酶(ACE)基因第16内含子中287 bp的插入/缺失（I/D）多态性与儿童原发性高血压的关系。方法：应用聚合酶链式反应（PCR）技术检测105例原发性高血压儿童（高血压组）及105例正常健康儿童（对照组）的ACE基因第16内含子中287 bp的I/D多态性。结果：高血压组及对照组儿童的ACE基因第16内含子均有I/D多态性，分为II、ID、DD 3种形态。高血压组DD型、ID型、II型基因型频率分别为30.5%、47.6%、21.9%，对照组DD型、ID型、II型基因型频率分别为14.3%、46.7%、39.1%，两组比较，DD型、II型基因型频率差异有统计学意义（P＜0.01）。高血压组D等位基因的基因频率明显高于对照组（54.3% vs 37.6%，P<0.01）；而I等位基因的基因频率明显低于对照组（45.7% vs 62.4%，P<0.01）。结论：ACE基因存在II型、ID型、DD型多态性。儿童原发性高血压的发生可能与ACE基因中第16内含子287 bp的缺失相关。
Abstract：OBJECTIVE: To study the relationship between insertion/deletion (I/D) polymorphism of 287 bp in the 16th intron of angiotensin converting enzyme (ACE) and essential hypertension in children. METHODS: I/D polymorphism of 287 bp in the 16th intron of ACE was detected using PCR in 105 children with essential hypertension and 105 normal children as control group. RESULTS: There was an I/D polymorphism in the 16th intron of ACE in the hypertension and the control groups: type II, type ID and type DD. The genotype frequencies of type DD, type ID and type II in the hypertension group were 30.5%, 47.6% and 21.9%, respectively. The genotype frequencies of type DD, type ID and type II in the control group were 14.3%, 46.7% and 39.1%, respectively. There were significant differences in the genotype frequencies of types DD and II between the two groups (P<0.01). The allele frequency of type D (54.3% vs 37.6%) was significantly higher in the hypertension group; in contrast, the allele frequency of type I (45.7% vs 62.4%) was significantly lower than in the control group (P<0.01). CONCLUSIONS: Polymorphism of type II, type ID and type DD exits in ACE. The deletion of 287 bp in the 16th intron of ACE might be associated with the occurrence of essential hypertension in children.
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