哮喘患儿血管紧张素转换酶基因多态性的初步研究(1)
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[摘要] 目的 探讨哮喘患儿血管紧张素转换酶(angiotensin converting enzyme，ACE)的基因型及其分布。 方法 提取87例哮喘患儿(实验组)和58例正常儿童(对照组)外周血基因组DNA，用PCR方法检测其ACE的基因型。 结果 实验组基因型为缺失型纯合子DD型38例、缺失型杂合子ID型19例、插入型纯合子II型30例，对照组基因型为缺失型纯合子DD型9例、杂合子ID型18例、插入型纯合子II型31例，两组基因型构成差异有统计学意义(P <0.05)。实验组等位基因D的频率为54.59%、I为45.41%，对照组的等位基因D的频率为31.03%、I为68.97%，两组等位基因频率差异有统计学意义(P < 0.05)。 结论 哮喘患儿ACE的基因型以DD型为多见，ACE的基因多态性和儿童哮喘的易感性有关，可能是儿童哮喘发生的危险性因素。
[关键词] 哮喘；血管紧张素转换酶；多态性
[中图分类号] R725.6 [文献标识码] A [文章编号] 1673-7210(2012)01(c)-0023-02
Preliminary study on gene polymorphism of angiotensin converting enzyme in asthma children
CHEN Xin ZHOU Lin ZHONG Weida
Department of Pediatrics, Hainan Provincial Gynecology and Obstetrics Hospital, Hainan Province, Haikou 570105, China
[Abstract] Objective To explore gene polymorphism of the angiotensin converting enzyme (ACE) in asthmatic children. Methods A total of 87 asthmatic children (experiment group) and 58 normal children (control group) were involved in this study, and the peripheral blood genomic DNA was extracted from each subject for detection of ACE genotype with PCR. Results There were 38 cases with DD genotype, 19 cases with ID genotype and 30 cases with II genotype in the experiment group, while 9 cases with DD genotype, 18 cases with ID genotype and 31 case with II genotype in the control group, which were significantly different (P < 0.05). The frequency of allele D and I in ACE gene were 54.59% and 45.41% in the experiment group, which were 31.03% and 68.97% in the control group, and statistical difference was observed between the two groups (P < 0.05). Conclusion It is concluded that DD in ACE gene should be the main genotype for children with asthma and ACE gene polymorphism should be related to asthmatic susceptibility.
[Key words] Asthma; Angiotensin converting enzyme; Polymorphism
哮喘是一种严重危害小儿身体健康的常见呼吸道疾病，其发病率较高、病程较长且反复发作[1]。研究表明，儿童哮喘是遗传和环境因素共同作用的多基因遗传性疾病，故与哮喘的相关或易感基因的多态性越来越受到重视[2]。本研究通过检测哮喘患儿血管紧张素转换酶(angiotensin converting enzyme，ACE)基因型及其分布，探讨ACE多态性和儿童哮喘的关系。
1 资料与方法
1.1 一般资料
选取2009年6月~2010年7月我院儿科收治的87例哮喘患儿为实验组，其中，男43例，女44例；年龄3~9岁，中位年龄6岁；诊断按全国儿科防治协作组制定的儿童哮喘诊断标准[3]进行。本院健康体检合格儿童58例为对照组，其中，男32例 ......
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