凝血因子V基因Leiden突变检测方法在新疆汉族健康人群中应用

目的建立FV Leiden突变的检测方法,研究分析新疆汉族健康人群中FV Leiden突变的发生率。方法应用聚合酶链反应(PCR)—限制性片段长度多态性分析(PCR-RFLP),对新疆地区82例健康个体进行FV Leiden基因突变研究分析。结果新疆汉族健康个体均未检出FV Leiden基因突变类型包括纯合子和杂合子。结论 FV Leiden突变可能不是新疆地区汉族健康人群静脉血栓(VT)发病的主要危险因素。     

凝血因子V169G→A基因突变的研究分析

目的 研究分析中国新疆地区健康人群中FV1691G→A基因突变的发生率。方法 凝血因子V(coagulation factor V)在凝血过程中是一种重要的辅因子,其基因中一个点突变1691G→A,使它对抗凝血系统中的一种血浆蛋白质C(APC)的失活作用而产生抗性,从而使血栓发生风险增大。应用多聚酶链反应-限制性片段长度多态性分析(PCR-RFLP),对新疆地区98例汉族、67例维吾尔族和54例哈萨克族健康个体进行研究分析。结果 哈萨克族人群中检出2例FV Leiden 1691G→A突变杂合子;汉族和维吾尔族人群中均未发现该突变类型。结论 中国新疆地区哈萨克族人群中存在FV Leiden基因突变,而汉族和维吾尔族人群中未检测到该类型突变,FV Leiden的发生存在着地区、种族差异,FV Leiden突变可能不是新疆地区人群静脉血栓(VT)发病的主要危险因素。     

凝血因子Ⅴ 1691G→A基因突变的研究分析

目的 研究分析中国新疆地区健康人群中FV 1691G→A基因突变的发生率。方法 凝血因子Ⅴ(coagulation factorⅤ)在凝血过程中是一种重要的辅因子，其基因中一个点突变1691G→A，使它对抗凝血系统中的一种血浆蛋白质。C(APC)的失活作用而产生抗性，从而使血栓发生风险增大。应用多聚酶链反应一限制性片段长度多态性分析(PCR-RFLP)，对新疆地区98例汉族、67例维吾尔族和54例哈萨克族健康个体进行研究分析。结果 哈萨克族人群中检出2例FV Leiden 1691G→A突变杂合子；汉族和维吾尔族人群中均未发现该突变类型。结论 中国新疆地区哈萨克族人群中存在FV Leiden基因突变，而汉族和维吾尔族人群中未检测到该类型突变，FV Leiden的发生存在着地区、种族差异，FV Leiden突变可能不是新疆地区人群静脉血栓(VT)发病的主要危险因素。     

围生期脑静脉血栓形成与FV Leiden突变的关系

目的探讨围生期脑静脉血栓形成与凝血因子V Leiden突变的关系。方法应用聚合酶链反应-限制性片段长度多态性PCR技术（PCR-RFLP）对广州地区汉族8例围生期脑静脉血栓形成及50例正常妊娠妇女进行凝血因子V Leiden突变研究分析。结果58例研究对象中未发现凝血因子V Leiden突变。结论FVL突变作为广州地区汉族妇女围生期脑静脉血栓形成的主要危险因素的可能性较小,广州地区汉族妇女FVL突变率较低。     

蒙古族谷胱甘肽S-转移酶GSTT1和GSTM1基因多态性

目的 探讨内蒙古地区蒙古族谷胱甘肽S-转移酶(glutathione S-transferase GSTs EC 2.5.1.18) GSTM1和GSTT1基因多态性分布特点,为内蒙古少数民族基因型研究提供相关数据。 方法 采用内对照聚合酶链反应技术（PCR）和凝胶成像分析方法,对555例内蒙古地区蒙古族个体的GSTT1、GSTM1基因缺失型频率进行了分析。结果 GSTM1基因缺失型、GSTT1缺失型在内蒙古地区蒙古族人群中检出频率分别为55.7%和65.9%。同时具有GSTM1缺失型和GSTT1缺失型个体的 检出频率为32.2%。结论 中国蒙古族人群GSTM1、GSTT1基因呈多态性分布,与汉族及其他少数民族存在一定差异。     

维吾尔族及汉族早发性乳腺癌 BRCA1基因突变分析

目的研究维吾尔族及汉族早发性乳腺癌患者BRCA1突变情况及突变位置。方法选取35例维吾尔族及汉族早发性乳腺癌根治标本（其中维吾尔族早发性乳腺癌22例,汉族乳腺癌13例）,对照组为32例维汉族乳腺良性病变（纤维腺病及纤维腺瘤）及乳腺癌旁非癌组织;运用PCR—SSCP和DNA序列测定的方法检测BRCA1基因突变。结果（1）35例新疆早发性乳腺癌（≤35岁）BRCA1突变率为22．86％（8／35）,22例维吾尔族早发性乳腺癌BRCA1突变率为31．82％（7／22）。（2）35例新疆早发性乳腺癌中发现8例BRCA1突变的12个新位点,其中2例突变位点IVS20-68insA均为维吾尔族早发性乳腺癌患者。（3）35例新疆早发性乳腺癌中发现7例BRCA1基因核苷酸多态性,对照组32例维吾尔族及汉族乳腺癌旁非癌组织及乳腺良性病变中仅发现1例BRCA1基因核苷酸的多态性。结论BRCA1突变可能与新疆早发性乳腺癌尤其是维吾尔族早发性乳腺癌密切相关,其突变位点IVS20—68insA可能是新疆维吾尔族早发性乳腺癌的遗传易感性位点,尚需扩大样本进一步研究证实。     

凝血酶原基因G20210A和凝血因子V Leiden突变与冠心病的相关性探讨

目的：探讨凝血酶原基因G20210A和凝血因子VG1691A(Leiden)突变在中国汉族人群中的发生率及与冠心病的关系。方法：用聚合酶链反应和限制性内切酶片段长度多态性技术，对234例冠心病患者和210名正常人的凝血酶原基因G20210A和凝血因子V Leiden突变进行分析。结果：找到了一例正常人的凝血酶原基因G20210A变异，突变率为0．2％。冠心病和正常人中均未发现凝血因子V Leiden突变。结论：汉族人群中存在凝血酶原基因G20210A突变，但凝血酶原基因G20210A和凝血因子V Leiden变异在我国的发生率较低，不足以作为冠心病的遗传性危险因素。     

凝血酶原基因G20210A和凝血因子ⅤLeiden突变与冠心病的相关性探讨

目的: 探讨凝血酶原基因G20210A和凝血因子ⅤG1691A(Leiden)突变在中国汉族人群中的发生率及与冠心病的关系。方法: 用聚合酶链反应和限制性内切酶片段长度多态性技术, 对234例冠心病患者和210名正常人的凝血酶原基因G20210A和凝血因子ⅤLeiden突变进行分析。结果: 找到了一例正常人的凝血酶原基因G20210A变异, 突变率为0.2%。冠心病和正常人中均未发现凝血因子ⅤLeiden突变。结论: 汉族人群中存在凝血酶原基因G20210A突变, 但凝血酶原基因G20210A和凝血因子ⅤLeiden变异在我国的发生率较低, 不足以作为冠心病的遗传性危险因素。     

维吾尔族和汉族散发性乳腺癌患者BRCA1/2基因突变的检测

目的探讨新疆维吾尔族和汉族散发性乳腺癌患者乳腺癌易感基因1/2(BRCA1/2)突变情况及与临床病理参数的关系。方法采用PCR和DNA直接测序法,对新疆地区230例散发性乳腺癌患者(维吾尔族、汉族各115例)石蜡组织进行BRCA1基因第2、11(11A和11B)、20号外显子和BRCA2基因第11号部分外显子,共5对引物进行突变检测。结果 230例乳腺癌患者中,BRCA基因突变率为6.96%(16/230),其中1例BRCA1基因-5 382位点的突变及7例新发突变位点;维吾尔族和汉族患者中BRCA基因突变检出率分别为7.83%(9/115)和6.09%(7/115);BRCA基因突变组发病年龄均≤50岁;突变组16例患者中绝经前患者(13例)的突变率明显高于绝经后患者(3例)(P0.05)。结论 BRCA1基因突变可能与新疆地区散发性乳腺癌发生相关。     

中国北方蒙古族、汉族、达斡尔族人群的ACE基因的多态性

目的调查蒙古族、汉族、达斡尔族人群的ACE基因I/N的多态性,分析这些民族的遗传特点.方法应用ACE基因内含子的16多态部位侧翼的前体进行PCR扩增.等位基因在琼脂胶上电泳,溴乙啶染色,紫外灯下观察.结果蒙古族人群的DD,DI和Ⅱ基因型的频率是0.51,0.26和0.23;汉族的是0.33,0.32和0.35;达斡尔族人群的是0.26,0.60和0.13.结论ACE基因I/N的多态性在蒙古族、汉族和达斡尔族三民族的分布是不同的.     

蒙族和汉族人群 CYP1A1基因MspⅠ位点的多态性

目的研究内蒙古地区蒙族和汉族人群CYP1A1基因Msp Ⅰ位点的多态性。方法应用聚合酶链反应．限制性片段长度多态技术对无血缘关系的80名蒙族和120名汉族个体的基因型进行分析。结果内蒙古地区蒙族和汉族人群CYP1A1基因wt／wt、wt／vt和vt/vt 3种基因型的频率分布分别是：蒙族35．0％、48．7％、16．3％和汉族33．3％、52．5％、14．2％。两者之间经X^2检验差异无统计学意义（P〉0．05）。结论内蒙古地区蒙族和汉族人群CYP1A1 基因Msp Ⅰ的基因型频率分布无明显差异。     

广东籍汉族妇女抗凝血酶Ⅲ和FactorⅤ基因多态性与子痫前期和子痫的相关性研究

目的探讨抗凝血酶III（AT-III）、凝血因子Ⅴ（FactorV）基因多态性与广东籍汉族早孕期妇女子痫前期和子痫发生的关系。方法回顾性分析567例早孕期广东籍汉族妇女AT-III及FactorV基因的突变情况,将其中54例妊娠20周后发生子痫前期和子痫的患者作为观察组,513例正常妊娠者作为对照组。基因突变检测分别采用DdeI和MnlI限制性内切酶片段长度多态性分析。结果观察组ATIIIDdeI＋＋、DdeI＋-及DdeI--基因型频率分别为51.9%、27.8%和20.4%,对照组则分别为66.7%、25.5%和7.8%。观察组AT III DdeI-基因型频率显著高于对照组（34.3%,20.6%,P〈0.01）,AT III DdeI--基因型在子痫前期和子痫发病中的相对风险率为3.025。观察组和对照组均未检出Factor VLeiden突变。结论 ATIII基因多态性可能与广东籍汉族妇女子痫前期和子痫发病相关,而Factor VLeiden突变与其发病无关。     

Factor V gene (1691A and 4070G) and prothrombin gene 20210A mutations in patients with Behçet's disease

OBJECTIVES: Beh?et's disease (BD) is a chronic inflammatory disorder of still unknown etiology, characterized by endothelial cell injury/dysfunction and thrombosis and/or aneurysm of large blood vessels. Thrombophilia may play a role in the pathogenesis of thrombosis in BD. The common inherited gene defects, factor V (FV) 1691A (Leiden) and prothrombin (PT) 20210A, are known risk factors for thrombosis. The FV 4070G polymorphism was shown to influence circulating FV levels and to contribute to the activated protein C resistance phenotype. The aim of the study was to evaluate the role of FV 1691A, FV 4070G and PT 20210A gene mutations in Turkish BD patients with and without venous thrombosis. METHODS: Seventy-one patients with BD (27 with venous thrombosis) and 91 healthy subjects were included in the study. FV 1691A, FV 4070G, and PT 20210A mutations were determined by a method based on PCR-RFLP. RESULTS: The frequency of FV 1691A heterozygous mutation in BD patients with venous thrombosis (25.9%) was significantly higher than that in healthy subjects (8.8%; OR = 3.63; 95% CI 1.18-11.2). Although the frequency of this mutation in patients with venous thrombosis was higher than that in the patients without venous thrombosis (11.4%), the difference did not reach a statistically significant level (OR = 2.73; 95% CI 0.77-9.70). In BD patients with thrombosis, the frequencies of FV 4070G and PT 20210A were not significantly different compared to the BD patients without venous thrombosis and healthy subjects. CONCLUSIONS: Our results suggest that the FV 1691A, FV 4070G, and PT 20210A mutations are unlikely to play an important role in the pathogenesis of thrombosis in patients with BD.     

海南汉族、黎族人群葡萄糖—6—磷酸脱氢酶基因的1376G→ …

目的 了解海南汉族、黎族人群Ｇ６ＰＤ缺乏症患者的Ｇ６ＰＤ基因１３７６Ｇ→突变。方法 用盐提取法提取Ｇ６ＰＤ缺乏症患者白细胞的ＤＮＡ,用等位基因特异聚合酶链反应检测１３７６Ｇ→Ｔ突变。结果在分析的５９例汉族患者和３２例黎族患者中,１９例汉族患者和１８例黎族患者有Ｇ６ＰＤ基因１３７６Ｇ→Ｔ突变,该突变在汉族、黎患者中所占的比例分别为３２．２％和５６．２％。结论 Ｇ６ＰＤ基因１３７６Ｇ→Ｔ是引起海南黎族     

Factor V Leiden: association with venous thromboembolism in pregnancy and screening issues

Disturbances of the natural balance between procoagulant and anticoagulant mechanisms can result in bleeding or thrombotic tendencies. Factor V, on activation by thrombin to factor Va, forms an essential component of the prothrombinase complex, in which it demonstrates its cofactor activity for factor Xa. Down-regulation of factor Va by activated protein C (APC) occurs through cleavage of specific peptide bonds in the heavy chain of the molecule. Factor V Leiden (FV Leiden) is a mutation of factor V that renders factor Va resistant to APC, due to loss of one of these cleavage sites. This mutation predisposes the patient to thrombosis. Prevalence of FV Leiden varies; however, heterozygosity for the FV Leiden mutation is recognised as the most common heritable thrombophilic defect in Caucasian populations. The association this inherited thrombophilia has with venous thromboembolism (VTE) is well established. Pregnancy is notably an acquired hypercoagulable state, due in part to physiological changes that occur in the coagulation system. This seems to have potential for interaction with FV Leiden to cause adverse experiences. A role has been suggested for FV Leiden in VTE events during pregnancy. At present only selected women are screened for FV Leiden. Pregnant women with a history of VTE or with a family history of the mutation are investigated. Whether or not the introduction of a routine screening plan for this mutation is justified remains a matter for debate.     

凝血因子Ⅴ和Ⅶ基因多态性与冠心病的初步研究

目的　观察凝血因子 (coagulation factor ,F )、 (coagulation factor ,F )基因多态性在中国汉族人群中的分布及其与冠心病 (coronary heartdisease,CHD)的关系。方法　应用聚合酶链反应和限制性内切酶片段长度多态性技术检测了 2 34例 CHD患者和 2 10名正常对照者的 F 、F 基因型 ,结合选择性冠状动脉造影结果探讨两者的关系。结果　 F 等位基因 R、Q和 H7、H6频率在冠心病组和对照组分别为 94 .6 %、5 .6 %、70 .3%、2 9.7%和 91.9%、8.1%、6 0 .9%、39.1%。基因型频率符合 Hardy-Weinberg平衡定律。R35 3Q和 HVR4基因型频率和等位基因频率在 CHD组和对照组 ,狭窄血管支数之间比较差异均无显著性。 R35 3Q基因型频率和等位基因频率在非心肌梗塞组和心肌梗塞组比较差异有显著性 (χ2 =4 .711,P<0 .0 5 ,OR=0 .37,95 % CI:0 .15～ 0 .94 ) ,而 HVR4基因多态在两组间比较差异无显著性(χ2 =0 .14 2 ,P>0 .0 5 )。冠心病组和对照组均没有发现 F L eiden突变。结论　F R35 3Q基因多态中的 Q等位基因可能是对抗心肌梗塞的保护因子     

造影分析蒙古族和汉族股动脉分叉位置差异

目的通过造影分析蒙古族和汉族股动脉分叉位置差异,为今后蒙古族和汉族患者行股动脉穿刺介入诊疗提供可靠的解剖依据。方法540例经股动脉径路行冠状动脉造影和/或冠状动脉血管成形术的患者,其中蒙古族患者270例(部分来自蒙古国)(蒙古族组),汉族270例(汉族组)。蒙古族组男性201例,女性69例;年龄46～78岁,平均年龄62.4岁。汉族组男性198例,女性72例;年龄48～79岁,平均年龄63.1岁。术中常规行股动脉造影。以股骨头和耻骨联合为参照,透视下在股骨头上缘和耻骨联合中点之间做一连线,再沿股骨头下缘、股骨头中心做两条平行线,由上到下将腹股沟部分为A、B1、B2、C共4个区,对常规穿刺股动脉位置行造影评价,并对因穿刺位置引起的相关并发症进行回顾分析。结果蒙古族患者股动脉分叉位于A、B1、B2、C区分别为5.1%、29.4%、44.3%和21.2%;汉族患者股动脉分叉位于A、B1、B2、C区分别为1.2%、26.3%、32.7%和39.8%,两组患者股动脉分叉间差异有显著统计学意义(P<0.01)。两组患者因股动脉穿刺导致的相关并发症分别为11.1%和2.2%(P<0.01)。结论蒙古族患者股动脉分叉位置较汉族患者股动脉分叉位置普遍偏高,股总动脉在股骨头中点以上区域分叉分别为73.7%和59.0%。在股骨头中点以下区穿刺股动脉蒙古族患者易出现与穿刺相关的并发症,所以对蒙古族患者行经股动脉径路介入时应在股骨头中点以上穿刺。     

Résistance à la protéine C activée et facteur V Leiden : intérêt clinique

Activated protein C resistance (APCR) is a coagulation abnormality often linked to FV Leiden mutation, a single nucleotide G1691A substitution resulting in arginine 506 → glutamine missense factor V mutation. FV Leiden has a frequency of 20 to 30% in groups of patients with venous thrombosis while it is of 4 to 10% in normal subjects. FV Leiden is considered as a weak risk factor of thrombosis except in homozygote. FV Leiden is implicated in deep venous thrombosis occurrence. Duration of oral anticoagulant treatment is six months in patients developing a first venous thrombosis except in patients with combined defects or a clinical context suggesting a high risk of severe relapse. Detection of APCR by coagulation methods is often used in first intention with a high specificity if plasmas tested are diluted in factor V deficient plasma. Genotyping study is essential to establish the heterozygote or homozygote statute and certain teams perform it directly. Nevertheless, APCR not related to FV Leiden could be an independent thrombosis risk factor. APCR and FV Leiden are included in laboratory investigations of thrombophilic markers in patients less than 50 years with venous thrombosis. In arterial thrombosis, FV Leiden implication is weak or absent. FV Leiden increases the risk of thrombosis in other situations as in patients with cancer. An association with recurrent miscarriages and other vasculoplacental complications is also reported in many studies but the data concerning the efficacy of antithrombotic treatment to prevent recurrence are currently insufficient.     

新疆地区活体肾移植178例随访

背景：新疆的特殊之处在于是国内少数民族与汉族混杂聚集地,新疆地区目前尚无少数民族与汉族间活体肾移植有种族差异的明确报道。 目的：比较新疆地区少数民族与汉族间活体肾移植的种族差异。 方法：回顾性分析新疆地区1999/2010行活体肾移植受者的临床资料,并对移植前、后一般临床资料,以及移植后少数民族与汉族间移植肾存活率进行比较分析,将可能影响移植肾存活率的各种因素进行单因素分析。 结果与结论：纳入随访资料完善者178例,其中少数民族131例,汉族47例。汉族组受者的移植肾存活率较少数民族组患者稍高,但差异无显著性意义。对可能影响长期移植肾生存的因素进行Cox单因素分析,显示急性排斥反应对移植肾生存有明显影响。提示新疆地区不同民族间接受同种民族活体肾移植的短中期移植肾存活率差异无显著性意义,急性排斥反应为影响移植肾存活的重要因素。     

Recurrent pregnancy loss and its relation to FV Leiden, FII G20210A and polymorphisms of plasminogen activator and plasminogen activator inhibitor

Thrombophilic disorders and hypofibrinolysis were demonstrated to be risk factors in a majority of women with recurrent pregnancy loss (RPL) and infertility. We investigated the association of FV G1691A mutation, F II G20210A gene polymorphism (PM), 4G/5G PAI-1 and Alu I/D tPA PM in 32 women with infertility and 49 women with at least 2 unexplained early abortions. FV Leiden mutation was significantly more common in women with RPL (10%, p = 0.02) and infertility (19%, p = 0.0005) compared with controls (2%). PAI-1 4G PM and t-PA Alu I PM, alone or in combination, were not associated with RPL or infertility. 9/49 women with RPL showed coagulation disorders with heterozygous FV Leiden mutation (5), FXII (1), protein C (1) or protein S (2) deficiency. However, due to the small number of patients studied, no definite conclusion can be drawn.