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背景:血管紧张素转换酶是肾素-血管紧张素-醛固酮系统的重要组成部分,血管紧张素转换酶基因第16内含子内存在一个287bp的Alu序列的插入/缺失(I/D)多态性,与心血管疾病、IgA肾病等疾病的发生具有一定的相关性。目的:分析汉族人群血管紧张素转换酶基因插入/缺失(I/D)多态性的分布,并与已知的其他种族人群进行比较。设计:以健康汉族人为观察对象的观察性实验。单位:江苏省临床免疫学重点实验室,苏州大学附属第一医院检验科,江苏大学医学技术学院检验系。对象:受检者为2005-12/2006-01苏州大学附属第一医院门诊健康体检者241名,男152名,女89名,平均年龄(27±8)岁,均为无血缘关系的苏州地区汉族人,经临床及实验室检查确认排除肝、肾、内分泌、心脑血管疾病。方法:应用聚合酶链反应检测了241名汉族健康体检者血管紧张素转换酶基因I/D多态性等位基因的基因型,并采用荧光标记末端终止法对基因型为D/D、I/I的PCR纯化产物进行DNA测序确认。主要观察指标:血管紧张素转换酶基因I/D基因型,等位基因频率以及与其他种族人群的比较。结果:241名受检者全部进入结果分析。①血管紧张素转换酶的基因型表现为缺失纯合子(DD)、插入纯合子(II)以及缺失和插入杂合子(DI),等位基因D较等位基因Ⅰ缺失一段287bp的核苷酸,即Alu序列。②II,ID,DD基因型频率分别为46.1%,41.5%,12.4%;等位基因I,D频率分别为66.8%,33.2%。③日本人与汉族人群血管紧张素转换酶基因型分布相似,均以II型最常见,DD型最少;欧美人群以ID居多,II型较少。汉族人群与日本人及欧美人群血管紧张素转换酶基因型频率的分布具有种族差异性。与其他各民族人群比较,汉族人群等位基因I显著高于上述各民族(χ2=105.55,P<0.01),等位基因D明显较低(χ2=87.54,P<0.01)。结论:血管紧张素转换酶基因多态性具有种族差异性。了解不同种族人群间血管紧张素转换酶基因多态性的遗传特点,是研究血管紧张素转换酶基因I/D多态性与疾病相关性的基础和前提。
BACKGROUND: Angiotensin-converting enzyme is an important component of the renin-angiotensin-aldosterone system. There is a 287bp insertion / deletion (A / D) sequence of Alu sequence in the 16th intron of angiotensin converting enzyme gene State, and cardiovascular disease, IgA nephropathy and other diseases have a certain relevance. OBJECTIVE: To analyze the distribution of angiotensin converting enzyme gene insertion / deletion (I / D) polymorphisms in Han population and to compare them with other racially known populations. Design: An observational experiment with healthy Han Chinese as the observer. Unit: Key Laboratory of Clinical Immunology of Jiangsu Province, First Affiliated Hospital of Suzhou University, Department of Laboratory Medicine, Jiangsu University School of Medicine. PARTICIPANTS: Subjects: 241 subjects, 152 males and 89 females, with a mean age of (27 ± 8) years, were all out-patients in the First Affiliated Hospital of Soochow University from December 2005 to January 2006, Han region, confirmed by clinical and laboratory tests to exclude liver, kidney, endocrine, cardiovascular and cerebrovascular diseases. Methods: The genotypes of 241 alleles of angiotensin converting enzyme gene polymorphism were detected by polymerase chain reaction (PCR) and the genotypes of D / D, I / I PCR purification product was confirmed by DNA sequencing. MAIN OUTCOME MEASURES: ACE I / D genotype, allele frequency and comparison with other ethnic groups. Results: 241 subjects all entered the result analysis. ① The genotypes of angiotensin converting enzyme are the deletion of homozygote (DD), insertion of homozygote (II) and deletion and insertion of heterozygotes (DI), the deletion of a 287 bp nucleotide in allele D compared with allele I , Alu sequence. ② The frequencies of genotypes II, ID and DD were 46.1%, 41.5% and 12.4% respectively; the frequencies of alleles I and D were 66.8% and 33.2% respectively. (3) The genotypes of angiotensin converting enzyme were similar between Japanese and Han nationality, most of them were type II, and DD was the least. European and American populations were mostly ID and less type II. There is a racial difference in the distribution of the ACE genotype frequencies between Han and Japanese as well as European and American populations. Compared with other ethnic groups, the allele I of Han nationality was significantly higher than that of other ethnic groups (χ2 = 105.55, P <0.01), and allele D was significantly lower (χ2 = 87.54, P <0.01). Conclusion: The polymorphism of angiotensin converting enzyme gene has racial difference. To understand the genetic characteristics of angiotensin-converting enzyme gene polymorphism among different ethnic groups is the basis and precondition to study the relationship between the I / D polymorphism of angiotensin converting enzyme gene and disease.