妊娠高血压综合征患者血管紧张素转化酶基因多态性研究  

Detection of Insertion/Deletion Polymorphism of Angiotensin Converting Enzyme Gene in Preeclampsia

作　　者：周宁[1,2] 于萍[1,2] 陈君[1,2] 黄海士[1,2] 江森[1,2] 

机构地区：[1]济南军区总医院妇产科 [2]山东医科大学生理教研室

出　　处：《中华医学遗传学杂志》1999年第1期29-31,共3页Chinese Journal of Medical Genetics

基　　金：山东省卫生厅科研基金

摘　　要：目的探讨血管紧张素Ⅰ转化酶（ＡＣＥ）基因第１６内含子插入／丢失多态性与妊娠高血压综合征（简称妊高征）的关系。方法应用聚合酶链反应，检测６０例妊高征患者及对照组７６例正常孕妇的ＡＣＥ基因中第１６内含子是否有Ａｌｕ重复结构存在。结果６０例妊高征患者中ＡＣＥ基因Ｉ型和ＤＤ型频率分别为１５％（９／６０）和６５％（３９／６０），而７６例正常晚期妊娠妇女中则分别为５０％（３８／７６）和１０．５％（８／７６）。妊高征组的缺失型（Ｄ型）ＡＣＥ等位基因出现频率为０．７５，高于对照组的０．３０８，差异有显著性（Ｐ＜０．０１）。结论提示Ｉ型基因是妊高征的保护性基因，ＤＤ型基因是妊高征的易感基因，ＡＣＥ基因的缺失多态性（ＤＤ）可能与妊高征的发病有关。Objective To establish a method for sensitive specific and rapid detection of the angiotensin converting enzyme(ACE) genotypes and to study the relationship between the ACE gene polymorphism and preeclampsia. Methods Sixty patients with preeclampsia and 76 normal pregnant women as controls were investigated. A pair of primers, for the intron 16 of ACE gene was designed. A sensitive and specific method for detecting the ACE polymorphism of the insertion/deletion was established. Determined by polymerase chain reaction(PCR),a 490bp(I) and 190bp(D) PCR product was identified, corresponding to the PCR amplification of the allele with or without the insertion. Results The subjects were classified, according to the presence or absence of a 287bp insertion in intron 16 of the ACE gene, as II, DD, or heterozygotes for deletion/insertion(DI). The frequency of allele gene(0.75) and the percentage of the ACE DD genotype(65%) in the preeclampsia group were significantly higher as compared with the freqency(0.308) and the percentage (10.5%) in the control group respectively. Conclusion Genotype II of ACE is a marker for reduced risk for preeclampsia and DD is a risk gene.

关 键 词：妊娠高血压 综合征 ACE 基因多态性 遗传学 

分 类 号：R714.246[医药卫生—妇产科学]