东莞市T2DM患者与健康人ACE基因多态性研究

目的研究血管紧张素转换酶基因插入（I）／缺失（D）多态性在东莞市T2DM患者与健康人中的分布。方法采用限制性片段长度多形态多聚酶链式反应（PCR—RFLP）技术对东莞市200例T2DM患者和93例健康者进行ACE基因内含子16插入／缺失（I／D）多态性检测。结果东莞市T2DM患者ACEDD、Ⅱ、ID基因型分布频率分别为8．5％、46．0％和45，5％．等位基因频率分别为I：68，8％、D：31．2％。健康对照组的频率分别为19．4％、35．5％和45，2％．等位基因频率分别为1：58，1％、D：41．9％。T2DM患者与健康对照组比较，I等位基因频率显著增高，而D等位基因频率显著降低（P％0，05）。结论ACE基因多态性是致T2DM的遗传危险因素之一。     

抑郁症易感性与5-羟色胺转运体基因的多态性

目的：探讨5-羟色胺转运体启动子区域基因多态性和抑郁症之间是否存在关联性。方法：运用聚合酶链反应和限制性片断长度多态性技术，检测抑郁症患者（患者组，n=60）和正常人（对照组，n=65）的5-羟色胺转运蛋白启动子区多态性的分布频率。结果：按意向处理分析，纳入结果分析患者组为60例，对照组为65人。①5-羟色胺转运蛋白启动子区基因型和等位基因频率比较：患者组和对照组5-羟色胺转运蛋白启动子区的S／S基因型频率分别为43．3％和20．0％，S等位基因频率分别为60.8％和43．8％，差异均有显著性（r=7．591，7．214；P〈0．05）。②5-羟色胺转运蛋白启动子区基因多态性：所有被检测者共出现3种基因型：纯合子L/L（419bp，419bo）、杂合子S／L（375bp，419bp），S／S（375bp，375bp）。结论：抑郁症患者比正常人有较高频率的S／S基因型和S等位基因，5-羟色胺转运蛋白启动子区的S等位基因可能是抑郁症的易感基因之一。     

中国人群血管紧张素转换酶基因与血管紧张素Ⅱ—1型受体基因A^1160—C单核苷酸多态性分析

目的：研究血管紧张素转换酶（ACE）基因Alu插入（I）／缺失（D）多态性与血管紧张素Ⅱ－1型受体（AT1R）基因A^1166-C单核苷酸多态性（SNP）在中国人群中的分布状态。方法：采用聚合酶链反应（PCR）及PCR－限制性片段长度多态性（PCR－RFLP）方法对中国人群ACE基因Alu I/D多态性和AT1R基因A^1166-C SNP频率进行分析比较。结果：中国人群的ACE基因各基因型频率Ⅱ型37．0％，ID型40．5％，DD型22．5％；I，D各等位基因型频率分别为57．3％，42．7％。AT1R基因A^1166-C SNP频率分布：AA型76．5％，AC型23．4％，CC型0．1％；等位基因频率A88．2％，C型11．8％。结论：中国人群ACE基因Alu I/D与AT1R基因A^1166-C的SNP频率的分布有明显的种族差异。     

脑卒中患者血管紧张素转化酶基因插入/缺失多态性分析

目的 探讨血管紧张素转化酶（ACE）基因插入／缺失（I／D）多态性与脑卒中的关系。方法 用聚合酶链反应（PCR）方法观察比较131名脑卒中患者及与其年龄相匹配的健康人50名的ACE基因I／D多态性。在实验中插入特异引物进行二次PCR扩增，以避免纯合子DD基因型的误判。结果 健康组对照、脑梗死组和脑出血组的基因型分布有差别（X^2=13．87，P=0．008），脑梗死组和脑出血组的DD基因型频率高于健康对照组的相应频率（X^2=9．21，P=0．002；X^2=8．76，P=0．003）。健康对照组、脑梗死组和脑出血组的D等位基因频率有差别（X^2=14．23，P=0．005），脑梗死组和脑出血组的D等位基因频率高于健康对照组的相应频率（X^2=11．17，P=0．00l；X^2=10．87，P=0．001）。结论 ACE基因具有I／D多态性，脑卒中与DD基因型和D等位基因有一定相关性，是可能引发脑卒中的危险遗传因素。     

汉族人群血管紧张素转换酶基因插入／缺失（I／D）的遗传多态性

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&;#177;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。（2）Ⅱ，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（X^2=105．55，P〈0．01），等位基因D明显较低（X^2=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。     

BAFF启动子-871C／T基因多态性在ITP患者中的意义

本研究通过检测B细胞活化因子（BAFF）启动子-871C／T基因多态性在特发性血小板减少性紫癜（ITP）患者中的分布情况,探讨其与ITP发病的相关性,并研究ITP患者初诊时血小板计数与BAFF-871C／T基因型的关系。选择133例ITP患者和117例健康对照者,应用等位基因特异性PcR（ASP—PCR）及琼脂糖凝胶电泳检测BAFF．871C／T多态性。判定各研究对象的基因型,并统计各基因型及等位基因的频率。结果表明：C／C、C／T、T／T3种基因型分布在ITP组分别为33．1％、42．1％、24．8％,对照组分剐为55．6％、33．3％、11．1％。T等位基因频率在111P组为45．9％、对照组为27．4％,差异均有统计学意义（P〈0．05）。ITP组T等位基因频率高于对照组。各基因型间血小板计数无统计学差异（P〉0．05）。结论：BAFF启动子-871C／T多态性可能与111P的发病有相关性,但各基因型之间患者初诊时血小板计数没有差别,不能作为病情严重程度的评价指标。     

妊娠高血压综合征患者血管紧张素转换酶基因多态性研究

目的探讨血管紧张素转换酶（ACE）基因插入／缺失多态性与妊娠高血压综合征（PIH）的关系。方法应用聚合酶链反应（PCR）检测92例PIH患者及85名正常妊娠者的ACE基因多态性。结果PIH组ACE基因3种基因型频率分别为DD型44．6％、ID型33．7％、Ⅱ型21．7％，对照组ACE基因3种基因型频率分别为DD型18．8％、ID型40．0％、Ⅱ型41．2％；两组的DD基因型及D等位基因频率比较差异有显著性（P〈0．05）。结论ACE基因的缺失多态性（DD）可能为妊高征发病的重要遗传因素之一。     

2型糖尿病患者FAT／CD36基因启动子区-3489C／T和密码子区478C／T多态性研究

目的探讨FAT／CD36脂肪酸转位酶基因启动子区-3489C／T和密码子区478C／T多态性与2型糖尿病（T2DM）的相关性。方法运用聚合酶链反应-限制性片段长度多态性技术对196例T2DM患者和120例正常对照者的-3489C／T与478C／T多态性进行检测，并比较各组间基因型频率和等位基因频率以及相关临床资料。结果（1）所有研究对象均无一例存在FAT／CD36基因启动子区478C→T突变，基因型均表现为478CC之纯合子，478CC和478TT等位基因频率分别为1和0。（2）T2DM组和正常对照组的-3489C／T多态性基因型和等位基因频率比较差异无统计学意义，P值分别为0．682和0．683。结论昆明地区的汉族人中FAT／CD36基因的启动子区一3489C／T和密码子区478位C／T多态性与昆明地区汉族人群2型糖尿病的发生无显著相关关系。     

血管紧张素转换酶基因多态性与冠心病发病危险因素相关性研究

目的：探讨血管紧张素转换酶（ACE）基因插入／缺失（I／D）多态性与中国人群冠心病发病危险因素的关系。方法：应用聚合酶链反应（PCR）扩增技术检测117例正常人，183例冠心病病人的ACE基因I／D多态性。结果：ACE基因型ⅡID DD在冠心病组与正常对照组频率分布分别为：37．75，39．3％，23．0％和45．4％，32．4％，22．2％，其中，I，D等位基因频率在两组分别为：57．4％，42．6％和36．8％，62．0％，两组间差异无显著意义。结论：本研究提示不能确定ACE缺失多态性是中国人群冠心病发病的危险因子。     

FCGR2B基因多态性与儿童特发性血小板减少性紫癜易感性的相关性研究

本研究探讨FCGR28232L／T单核苷酸多态性与儿童特发性血小板减少性紫癜（idiopathicthrombocytope—nicpurpum,ITP）易感性的相关关系。采用多聚酶链式反应一直接测序方法检测76例ITP患儿及37例正常对照儿的FCGR2B-232基因多态性,比较两组间基因型分布及等位基因频率的差异。结果发现,患者组中,I／I基因型42例,占55．3％;I/T基因型32例,占42．1％;T／T基因型2例,占2．6％。对照组中L／I基因型30例,占81．1％;I／T基因型7例,占18．9％;未发现T／T基因型。基因型表达在两组比较具有显著性差异（P〈0．05）。等位基因Ile及Thr在患者组和对照组所占比例分别为76．3％和90．5％及23．7％和9．5％,两组比较具有显著性差异（P〈0．05）,患者组等位基因Thr基因频率显著高于对照组。分析等位基因Thr危险度,发现OR为2,97,95％可信区间为1．25—7．05。Hardy—Weinberg平衡检验显示等位基因Ile与Thr的分布符合遗传规律。结论：人群中FCGR2b基因1232T多态性与ITP易感性具有相关性,等位基因232T很可能是儿童rrP发病的危险遗传因素。     

Venous thromboembolism in patients undergoing rehabilitation for stroke.

OBJECTIVE: To determine the incidence of venous thromboembolism during rehabilitation for stroke and to identify factors that alter its risk. DESIGN: Cohort. SETTING: Tertiary care stroke rehabilitation program. PATIENTS: 102 consecutive patients undergoing rehabilitation for stroke. INTERVENTIONS: Impedance plethysmography (IPG) as routine screening and in patients with symptoms of deep venous thrombosis (DVT). MAIN OUTCOME MEASURES: DVT, pulmonary embolism (PE), death from PE. RESULTS: Venous thromboembolism was documented in 11 patients (11%) an average of 60 days after stroke onset (range 14-138 days); 2 patients (2%) died from PE. DVT was found on routine IPG screening in six patients and verified by IPG in two clinically symptomatic patients. The odds of developing venous thromboembolism was 17.6 (95% confidence interval: 2.2-143.5) in patients who were bedridden or wheelchair-bound at the time of admission. CONCLUSIONS: The incidence of venous thromboembolism is high and greatest in bedridden or wheelchair-bound patients undergoing stroke rehabilitation; randomized trials evaluating the safety and efficacy of screening and/or prophylaxis in such patients are required.     

Incidence of venous thromboembolism in hospitalized patients vs community residents.

OBJECTIVE: To estimate the incidence rates of deep venous thrombosis (DVT) and pulmonary embolism (PE) in hospitalized patients and to compare these with incidence rates in community residents. PATIENTS AND METHODS: We performed a retrospective review of the complete medical records from a population-based inception cohort of patients who resided in Olmsted County, Minnesota, and had an incident DVT or PE from 1980 through 1990. RESULTS: From 1980 through 1990, 911 Olmsted County residents experienced their first lifetime event of definite, probable, or possible venous thromboembolism. Of these residents, 253 had been hospitalized for some reason other than a diagnosis of DVT or PE (in-hospital cases), and 658 were not hospitalized at onset of venous thromboembolism (community residents). The average annual age- and sex-adjusted incidence of in-hospital venous thromboembolism was 960.5 (95% confidence interval, 795.1-1125.9) per 10,000 person-years and was more than 100 times greater than the incidence among community residents at 7.1 (95% confidence interval, 6.5-7.6) per 10,000 person-years. The incidence of venous thromboembolism rose markedly with increasing age for both groups, with PE accounting for most of the age-related increase among in-hospital cases. Incidence rates in the 2 groups changed little over time despite a reduction in the average length of hospital stay between 1980 and 1990. CONCLUSIONS: Venous thromboembolism is a major national health problem, especially among elderly hospitalized patients. This finding emphasizes the need for accurate identification of hospitalized patients at risk for venous thromboembolism and a better understanding of the mechanisms involved so that safe and effective prophylaxis can be implemented.     

河南汉族人群静脉血栓栓塞症与MTHFR rs1801131基因多态性的关系

目的探讨亚甲基还原酶(methylenetetrahydrofolate reductase, MTHFR)rs1801131基因多态性与河南地区汉族人群静脉血栓栓塞症(venous thromboembolism, VTE)发生的关系。方法 54例VTE患者为VTE组,54例体检健康者为对照组;应用PStar高通量位点测序技术分析2组MTHFR rs1801131基因多态性,比较2组基因型分布频率和等位基因频率,并进行遗传学平衡定律检测。结果 2组基因型分布均符合遗传学平衡定律;VTE组MTHFR rs1801131基因型GG、GT、TT分布频率分别为0、9.3%、90.7%,等位基因G、T频率分别为4.6%、95.4%;对照组基因型GG、GT、TT分布频率分别为1.9%、33.3%、64.8%,等位基因G、T频率分别为18.5%、81.5%;VTE组TT基因型分布频率、T等位基因频率高于对照组(P<0.05)。结论位于MTHFR基因第1298位点的TT基因多态性可能与河南地区汉族人群中VTE发生有关,等位基因T携带者患静脉血栓的风险更高。     

Angiotensin-converting enzyme insertion/deletion polymorphism and polyneuropathy in type 2 diabetes without macroalbuminuria

Angiotensin-converting enzyme (ACE) gene polymorphism is thought to be a potent risk factor for nephropathy and retinopathy in diabetes. We investigated the association between polyneuropathy and gene polymorphisms of both the ACE insertion/deletion (I/D) and angiotensinogen (AGT) M235T genes in 84 type 2 diabetic patients without macroalbuminuria (21 with polyneuropathy and 63 without). ACE genotype distribution did not differ significantly between patients with and without polyneuropathy, but the frequency of the I allele was significantly higher in those with polyneuropathy than in those without. In contrast, neither the genotype distribution nor the allele frequencies of the AGT gene differed between the two groups. In logistic regression analysis using a D-additive model, the D allele had a protective effect on polyneuropathy (odds ratio [OR], 0.34; 95% confidence interval [CI], 0.13-0.88). A D-dominant model hypothesis also gave a significant OR (0.28; 95% CI, 0.09-0.90). ACE I/D polymorphism, but not AGT M235T polymorphism, may affect polyneuropathy development in type 2 diabetes without macroalbuminuria.     

骨科关节置换、植入物置入等较大创伤型手术后静脉血栓前状态的基因预测诊断

背景:目前创伤或骨科手术后的静脉血栓栓塞症早期基因诊断日益受到重视。目的:综述目前用于预测诊断骨科术后静脉血栓栓塞症较为成熟的一些基因的研究进展。方法:通过网络检索CNKI和PubMed数据库等2000-01/2011-01关于骨科术后静脉血栓基因诊断的文章,在标题和摘要中以"静脉血栓形成,深静脉血栓,肺栓塞,基因,诊断"或"thrombosis;DVT;PE;gene"为关键词。结果与结论:近年来临床和基础研究证实,骨科术后的静脉血栓栓塞症是人类典型的多基因遗传性疾病,至今发现了一些和血液高凝有关的突变基因与静脉血栓形成有密切关系,分别是:凝血因子V,抗凝血酶Ⅲ,蛋白C,蛋白S,纤溶酶原,纤维蛋白原,肝素辅因子Ⅱ,血栓调节蛋白和凝血因子Ⅻ。了解骨科术后静脉血栓栓塞症的遗传性致病基因机制,有利于早诊断、早治疗,降低其危害。     

ACE DD genotype: an independent predisposition factor to venous thromboembolism

BACKGROUND: The renin angiotensin system affects haemostasis through different mechanisms; data on the possible role of angiotensin-converting enzyme I/D polymorphism in the pathogenesis of deep venous thrombosis are conflicting, and no information is available regarding the A1166C polymorphism of the angiotensin type 1 receptor gene. In order to investigate this issue, angiotensin-converting enzyme and AT1R polymorphisms were genotyped in 336 consecutive venous thromboembolism patients and 378 controls. MATERIALS AND METHODS: Haemostasis-related risk factors have been evaluated by routine tests. Factor V Leiden, Factor II (G20210A), angiotensin-converting enzyme (I/D), and angiotensin type 1 receptor (A1166C) polymorphisms have been identified by molecular analysis. RESULTS: We documented a significant association between angiotensin-converting enzyme DD genotype and venous thromboembolism (OR=2.19 95%CI 1.51-3.17 adjusted for acquired and haemostasis-related risk factors, P<0.0001); in patients with haemostasis-related risk factors, angiotensin-converting enzyme DD genotype modified the risk of venous thromboembolism in hyperhomocysteinaemic and Factor V Leiden patients and was associated with the risk of recurrent venous thromboembolism (OR=1.83 95%CI 1.06-3.17 P=0.03). In patients without haemostasis-related risk factors the angiotensin-converting enzyme DD genotype was still an independent predictor of venous thromboembolism (OR=3.29 95%CI 2.17-4.98 adjusted for acquired risk factors, P<0.0001). No significant association between the angiotensin type 1 receptor CC genotype and venous thromboembolism was found. CONCLUSIONS: This study shows that angiotensin-converting enzyme DD genotype represents a susceptibility marker of thrombosis in subjects apparently without predisposing factors and traditional thrombophilic alterations, and increases the risk of venous thromboembolism in subjects in whom a thrombogenic condition occurs. Moreover, angiotensin-converting enzyme DD genotype may be considered a new predisposing factor to venous thromboembolism recurrence.     

深圳龙华区孕妇血清维生素Ｄ水平及其受体基因rs2228570多态性与子痫前期易感性相关性研究

目的　了解深圳龙华区子痫前期（preeclam psia,PE）孕妇血清中1,25-二羟基维生素D3[1,25-（OH）2 Vit D3]水平及其受体（VDR）基因rs2228570多态性分布情况,并探讨其与深圳龙华区PE发病的易感性。方法　收集2019年3月～2020年12月在深圳市龙华区人民医院妇产中心就诊并确诊为PE孕妇87例作为PE组,120例健康孕妇作为对照组。分别检测血清中1,25-（OH）2Vit D3水平,同时对VDR基因rs2228570多态性进行分析。结果　PE组1,25-（OH）2Vit D3水平（21.67±5.86 nmol/L）明显低于对照组（37.29±7.65 nmol/L）,差异有统计学意义（t=4.082 5,P=0.032 7）。重度PE孕妇1,25-（OH）2Vit D3水平（15.87±3.24 nmol/L）明显低于轻度PE孕妇（26.95±6.43 nmol/L）,差异有统计学意义（t=3.512 7,P=0.035 2）。经Spearman相关性分析,PE组孕妇1,25-（OH）2Vit D3水平与PE病情严重程度呈负相关（r=-0.612 4,P=0.05）。PE组VDR基因rs2228570位点CC基因型及C等位基因频率（65.52%和77.59%）明显高于对照组（29.17%和42.50%）,差异有统计学意义（χ2=7.280 3和5.102 8,均P<0.05）。CC基因型及C等位基因孕妇患PE的相对风险增加（OR=1.928,95%CI:1.503~2.617和OR=1.643,95％CI:1.204~1.921）,而TT基因型及T等位基因孕妇患PE的相对风险降低（OR=0.529,95%CI:0.326~0.793和OR=0.671,95％CI:0.485~0.916）。重度PE孕妇CC基因型及C等位基因频率（74.36%和84.62%）高于轻度PE孕妇（58.34%和71.87%）,差异有统计学意义（χ2=2.594 3和2.976 0,均P<0.05）。PE组CC基因型孕妇1,25-（OH）2Vit D3水平（13.78±2.91 nmol/L）明显低于CT和CC基因型孕妇（23.84±6.37 nmol/L和25.06±6.72 nmol/L）,差异均有统计学意义（t=3.920 4和4.271 5,均P<0.05）,但CT和TT基因型孕妇之间差异无统计学意义（t=0.970 3,P=0.152 8）。结论　PE孕妇1,25-（OH）2Vit D3水平明显降低,与PE病情严重程度呈负相关。同时VDR基因rs2228570位点存在多态性分布,其中CC基因型可能是深圳地区PE孕妇危险易感基因之一。     

白细胞介素6基因-174G/C和-634C/G多态性与冠心病的相关性研究

目的探讨白细胞介素6(interleukin6,IL6)基因启动子上游174G/C和634C/G基因多态性,在冠心病患者和正常人群中的分布及与冠心病的相关性。方法应用聚合酶链反应限制性片断长度多态性技术,对汉族199例冠心病患者及189名正常人群,白细胞介素6基因174G/C、634C/G位点进行研究,同时结合血脂、脂蛋白和载脂蛋白水平,探讨两者之间的关系。结果正常人群和冠心病患者的174G等位基因频率均为0.99。174C等位基因频率均为0.01。634C等位基因频率在正常人群和冠心病患者分别为0.82和0.76,G等位基因频率分别为0.18和0.24,两者差异有统计学意义(P<0.05)。冠心病患者634GG基因型频率(0.08)明显高于对照组(0.02)(P<0.05)。结论白细胞介素6基因174位点多态性与冠心病无关,而634位点多态性与冠心病有相关性。G等位基因可能是汉族人群冠心病的易感性标志。     

Type and location of venous thromboembolism in patients with factor V Leiden or prothrombin G20210A and in those with no thrombophilia

BACKGROUND: Patients with factor (F) V Leiden or the prothrombin G20210A polymorphism are at increased risk of developing deep vein thrombosis (DVT). On the other hand, the risk of developing pulmonary embolism (PE) appears to be low in carriers of FV Leiden, perhaps because of a lower tendency to develop iliofemoral DVT than non-carriers. For prothrombin G20210A, data are scanty and controversial. METHODS: The clinical manifestations (isolated DVT, DVT and PE, and isolated PE), the extension of DVT, and the presence of transient risk factors were retrospectively investigated in 115 patients with heterozygous FV Leiden, 87 with prothrombin G20210A and 200 with no thrombophilia marker. RESULTS: Isolated symptomatic PE was less prevalent in patients with FV Leiden (6%) than in those with prothrombin G20210A (21%) and no thrombophilia (23%) (P > 0.0001). The rate of distal DVT was higher in patients with no thrombophilia (16% vs. 7% for FV Leiden and 6% for prothrombin G20210A) (P = 0.02). No difference in the incidence of PE from distal and proximal DVT, the extension of proximal DVT and the type of transient risk factors for venous thromboembolism (VTE) was found in the three groups. Patients with prothrombin G20210A had a younger age at their first VTE (24 years, P < 0.0001) and a higher rate of DVT accompanying PE (P = 0.04) than those with FV Leiden or no thrombophilia. CONCLUSIONS: Carriers of prothrombin G20210A, unlike those of FV Leiden, have an increased risk of developing isolated PE. This difference was not explained by a different rate of distal DVT, extension of proximal DVT, or distribution of transient risk factors in the two groups. Patients with prothrombin G20210A have more severe clinical manifestations than those with FV Leiden or no thrombophilia.     

晚发性抑郁症与血管紧张素转化酶基因多态性关系研究

目的探讨晚发性抑郁症(LOD)与血管紧张素转换酶(ACE)基因第16内含子中Alu重复序列的插入/缺失(In-sertion/Deletion,I/D)多态性的关系。方法入组183例60~85岁老年人,晚发性抑郁症组(93例,下称LOD组)和正常对照组(90例,下称对照组),用聚合酶链式反应(PCR)法进行ACE基因I/D多态性分型。结果LOD组和对照组间基因型频率及等位基因频率分布差异无显著(χ2=0.241,P=0.886;χ2=0.127,P=0.722),各基因型亚型患者在年龄、性别、发病次数、病程、HAMD评分、有无精神病性症状、有无自杀企图间差异无显著(P均>0.05)。结论ACE基因I/D多态性与晚发性抑郁症无显著相关性。