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1.
目的:利用孕妇血浆中胎儿DNA进行无创产前诊断.方法:对包括10例X连锁隐性遗传病携带者的60例14~22孕周孕妇的血浆DNA进行巢式PCR,扩增胎儿来源的Y染色体特异性SRY基因.结果:38例妊娠男胎的孕妇中32例出现SRY基因扩增带,灵敏度为84.2%.22例妊娠女胎的孕妇中4例出现SRY扩增带,特异性为81.8%,总符合率为83.3%(50/60).10例X连锁隐性遗传病携带者中7例妊娠男胎的孕妇中6例检出SRY基因,3例妊娠女胎的孕妇均未检出SRY基因.结论:采用巢式PCR技术检测母体血浆中的胎儿DNA进行产前性别鉴定具有较高的灵敏度和特异性,在遗传病的产前诊断中具有很大的应用前景.  相似文献   

2.
目的探索一种灵敏、可靠、安全的胎儿性别鉴定方法。方法采集20例妊娠8周以上夫妇的外周血浆,采用密度梯度离心法浓缩核酸片段,并以此为模板,以实时荧光PCR(polymerase chain reaction)技术进行扩增Y染色体DYS19,DYS389,DYS390,DYS393上特异的短串联重复系列。结果 20例孕妇标本查出有DYS19产物9例,DYS389产物12例,DYS390产物12例,DYS393产物10例,孕妇中扩增到的短串联重复系列在丈夫标本内都检测到。根据PCR结果判断13例男性胎儿,与随访结果完全相同。结论以孕妇及其丈夫外周血浆为标本,实时荧光PCR技术扩增Y染色体短串联重复系列可用于早期胎儿性别鉴定。  相似文献   

3.
从母血浆提取胎儿DNA行产前诊断的研究   总被引:1,自引:0,他引:1  
目的:从孕妇血浆中提取胎儿DNA, 寻找一种非创伤性产前诊断的新方法。方法:采用煮沸法从血浆中提取DNA,结合巢式聚合酶链反应技术对40例10-40孕周的孕妇血浆中的胎儿DNA进行特异性扩增,扩增的基因为Y染色体的重复序列(DYZ1)基因,扩增片段大小为102bp。结果:30例孕育男性胎儿孕妇中有26例血浆中出现DYZ1基因扩增带。10例孕育女性胎儿孕妇血浆中,仅1例出现假阳性结果。结论:采用巢式聚合酶链技术在不同的孕期检测母体血浆中的胎儿DNA均有较高的灵敏度和特异性,作为一种非创伤性产前诊断的方法应用于临床具有可行性。  相似文献   

4.
用聚合酶链反应(Polymerase Chain Reaction PCR)扩增Y染色体特异DNA重复序列,来检测胎儿性别,是目前最新的方法。我们对两例孕妇血标本,用PCR方法检测,均显示Y染色体特异重复序列,与分娩后性别一致。现报道如下: 例1,叶某,女,26岁,婚后半年,孕七周。例2:陆某,女,25岁,婚后一年,孕20周。分别两例取指尖血一滴。经PCR检测(见:裘建英等,遗传与疾病1991;3:143)结果两例均显示154bP的Y特异荧光带,表明两例孕妇都怀有男性胎儿,这一结果经分娩后证实。  相似文献   

5.
目的:探索一种孕期、快速、非创伤性的胎儿性别的产前诊断方法.方法:应用DNA-PCR扩增技术,检测妊娠5~40周的正常孕妇游离在血浆内的无细胞胎儿DNA的SRY基因.结果:90例孕妇血浆中游离DNA检则SRY基因阳性结果32例,其中早孕11例,中孕9例,晚孕12例.最后经绒毛、羊水、脐带血和出生胎儿证实均为男性胎儿,符合率为100%.结论:PCR扩增技术,检测游离在孕妇血浆内的无细胞胎儿DNA能在孕期鉴别胎儿性别,尤其是对早期某些选择性遗传性疾病的非创伤性产前诊断意义重大.  相似文献   

6.
应用套式聚合酶链反应对孕妇尿样中游离胎儿DNA的检测   总被引:2,自引:0,他引:2  
Shi WJ  Sun YH  Cui LJ  Zhang Y  Li SR 《中华医学杂志》2003,83(6):482-484
目的 探讨应用套式聚合酶链反应(PCR)检测孕妇尿中游离胎儿DNA进行产前胎儿性别诊断的可行性,及其在临床应用的可能性。方法应用套式PCR对40例孕末期待产妇女尿液标本中的游离DNA进行特异性扩增,扩增片断为Y染色体的SRY基因,大小为300bp,结果40例孕妇所孕胎儿,21例为男性,19例为女性。2l例怀有男胎孕妇尿液标本经扩增后,6例为阳性,其中5例第l、2次扩增均为阳性,1例第2次扩增后方出现阳性扩增带;其余15例怀有男胎孕妇和19例怀有女胎孕妇尿液标本扩增结果均为阴性。结论孕妇尿液中的确存在着游离胎儿DNA,但需进一步提高其检出阳性率。  相似文献   

7.
母体血浆中胎儿DNA分析在性连锁遗传病产前诊断中的应用   总被引:3,自引:1,他引:3  
目的 建立一种准确、快速、简便的无创性胎儿性别鉴定技术.方法 应用实时定量PCR技术(Taqman探针法)检测35例孕妇血浆中胎儿DNA的Y染色体特异序列SRY基因,每例血浆样本DNA均用3个PCR管同时进行检测.结果 利用母体血浆中SRY基因定量PCR分析的灵敏度为94.7%,特异性为100%.结论 母亲血浆DNA中SRY基因定量检测是一种高度敏感性和比较可靠的胎儿性别鉴定技术,为性连锁遗传病提供一种无创性产前诊断方法.  相似文献   

8.
应用引物延伸预扩增反应技术检测孕妇血浆中的胎儿DNA   总被引:1,自引:0,他引:1  
目的:建立一种检测孕妇血浆中胎儿DNA的新方法。方法;对65例5-41孕周的孕妇血浆中胎儿DNA采用引物延伸预扩增(PEP)后行特异性位点聚合酶链反应(PCR)扩增,并用探针微孔板杂交法检测PCR产物。扩增的基因为Y染色体短臂SRY基因,扩增片段的大小分别为351bp和254bp。结果:46例妊娠男性胎儿的孕妇中41例血浆中出现SRY基因扩增带,检出率89.13%;19例妊娠女性胎儿的孕妇中3例(15.79%)为假阳性。本研究孕早、中、晚期的性别符合率分别为100%、90.91%、75%,总符合率86.15%。结论:利用PEP法能解决孕妇外周血中胎儿细胞数量太少达不到常规扩增条件所要求的最低模板量的问题,同时配合探针微孔板杂交法能使诊断结果更准确。  相似文献   

9.
母体血浆中游离胎儿DNA在产前诊断中的应用   总被引:1,自引:0,他引:1  
目的:建立一种从孕妇血浆中检测胎儿DNA的无创性产前诊断新方法。方法:对30例孕7-41周妇女血浆进行聚合酶链式反应,特异性扩增的胎儿基因为Y染色体上的DYZ1位点,扩增片段的大小为149bp。30例孕妇血浆均经过酚-氯仿法提取DNA作为模板,进行聚合酶链反应。结果:20例妊娠男性胎儿孕妇中有17例出现DYZ1基因扩增条带,检出率为85.0%。10例妊娠女性胎儿孕妇中未出现阳性扩增条带,无假阳性结果。本研究中早、中、晚孕期性别符合率分别为80%、80%、90%,总符合率为85%。结论:使用酚-氯仿法提取血浆中的DNA,可以提高模板的浓度和纯度,改善PCR条件,提高了结果的准确性,作为无创性产前诊断方法有应用于临床。  相似文献   

10.
目的:筛选新的Y染色体基因座,调查其在山西汉族人群中的等位基因频率分布。方法:在Y染色体基因组DNA中查找候选的基因座,用GDB基因库引物序列进行PCR扩增,再用银染方法显带。结景:本研究选择了Y染色体基因座DYS716,该基因座为5-核苷酸复杂重复序列,重复单位是cactc&cattc。在114例山西汉族无关男性个体血样中共检出了5个等位基因,20例女性DNA无扩增产物且50组家系调查无突变。其基因多样性为0,6361,在法医学应用方面,其个人识别能力(DP)和非父排除率(PE)均为0.6361。结论:新Y染色体基因座DYS716具有较高的遗传多态性,在法医学及人类遗传学方面具有应用价值。  相似文献   

11.
Objective To observe blood pressure change with age in salt-sensitive teenagers whose salt sensitivity were determined by repeated testing.Methods Salt sensitivity was determined through intravenous infusion of normal saline combined with volume-depletion by oral diuretic furosemide in 55 teenagers. After five years, salt sensitivity was re-examined and subject blood pressure was followed up. Blood pressure changes in salt-sensitive teenagers were compared to that of non-salt sensitive teenagers over five years.Results After 5 years, the repetition rate of salt sensitivity determined by intravenous saline loading is 92.7%. In teenagers with salt sensitivity on the baseline, both the systolic blood pressure increments and increment rates were much higher than non-salt sensitive teenagers (12.7±12.1 mmHg vs. 2.8±5.2 mmHg, P< 0.01; 12.2%± 12.0% vs. 2.5% ±4.4%, P< 0.001,respectively). There was a similar trend for diastolic blood pressure (8.4 ± 6.4 mmHg vs. 3.7 ± 6.4 mmHg, P = 0.052; 13.2% ±10.6 % vs. 6.8%± 10.1%, P = 0.053, respectively).Conclusions Salt sensitivity determined by intravenous saline loading showed good reproducibility. Blood pressure increments with age were much higher in salt-sensitive teenagers than non-salt sensitive teenagers, especially in terms of systolic blood pressure.  相似文献   

12.
Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P < 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (>0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P <0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P < 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD.  相似文献   

13.
Objective: To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods: SD rats served as both donors and recipients. 4℃ sodium lactate Ringer's was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava (IVC) inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results: Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion: This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment.  相似文献   

14.
Increasing maternal age is the only etiological factor unequivocally linked to Down's syndrome in humans. The occurrence rate of newborns with Down's syndrome is about 1/220 in women over 35 years old. However, the occurrence rate in embryos fertilized in vitro, of the elder woman is unclear. Using FISH we screened the number of chromosome 21 in preimplanted embryos of 5 elderly women (average age, 38.4 years) to study the feasibility and necessity of screening trisomy 21 in embryos in patients over 35 years old at the in vitro fertilization (IVF) center.  相似文献   

15.
Real-time three-dimensional echocardiography (RT3DE)is a new ultrasound technique that enables dynamic threedimensional visualization and quantification of the heart in real time. Investigation of feasibility and methodology of RT3DE in determining left ventricular (LV) and right ventricular (RV) volumes, RT3DE was performed in 35 normal adults using Philips SONOS 7500 system with a 2-4 MHz matrix array transducer. The 60°×60° "pyramid" volume database was obtained and analyzed on a TomTec echo workstation. Both LV and RV volumes were calculated with four 3DE methods (i.e. apical 2, 4, 8, and 16-plane) through manually tracing ventricular endocardial borders in end diastole and end systole. Stroke volumes were then calculated. LV volume was also measured by 2DE Simpson's rule using GE VIVID 7 ultrasound machine.  相似文献   

16.
A clinical guideline for the therapeutic interventions of integrative medicine may be defined as a written document which states a series of recommendations on therapeutic interventions of integrative medicine for a special disease or condition. The guideline may provide assistance to medical professionals in making clinical decisions aimed at improving the clinical outcome of patients and reducing the costs of medical care(~'4~. Recommendations issued by a guideline should be based on the best available evidence in both Western and Chinese medicine. For fulfilling this purpose, the development of clinical guidelines for therapeutic interventions in the field of integrative medicine should follow scientific principles and undergo a rigorous processes.  相似文献   

17.
Objective:To probe into the influence of changes of ovarian hormones on the pathogenesis of the specific sub-type premenstrual syndrome(PMS)and reveal partial microcosmic mechanisms of adverse flow of liver-qi.Methods:Estradiol(E2)and progesterone(P)levels in serum were determined at different phases of menstrual cycle by radioimmunoassay.Results:In the group of PMS with adverse flow of liver-qi.the secretive peak value Of E2 and P at the follicular phase significantly decreased,and the secretive peak value at the luteal phase did not come into being.Conclusions:Low E2 and P secretive peak at the follicular phase and absence of secretive peak at the luteal phase is one of the microcosmic mechanisms of PMS with adverse flow of liver-qi.One of the pathophysiologic mechanisms of specific sub-type PMS is probably the continuous low level of E2and P.  相似文献   

18.
Journal of Nanjing Medical University (English Edition) JNMU, sponsored by Nanjing Medical University, was established in 1987. It is a bimonthly comprehensive English medical journal published locally and abroad.Since 2007, Journal of Nanjing Medical University (English Edition )was granted Elsevier the full publishing and distribution rights worldwide for the Electronic Edition, excluding the People's Republic of China.  相似文献   

19.
目的:评价使用安心颗粒对急诊经皮冠状动脉介入术(PPCI)术后生活质量的影响.方法:将160例接受PPCI的急性ST段抬高型心肌梗死患者随机分为安心颗粒组(术前顿服安心颗粒8.8g,术后安心颗粒4.4 g/次,每日2次)和对照组(仅接受基础药物治疗).所有患者均服用阿司匹林、氯吡格雷和阿托伐他汀.分别在入院时、出院前1d、出院后180 d时,应用心肌梗死多维度量表(MIDAS)、中文版SF-36评价量表对患者生活质量评分.并观察术后30 d以内的出血并发症、血小板减少症发生情况.结果:入院时和出院前1d,两组患者的心肌梗死MIDAS、SF-36量表评分比较无差异(P>0.05);出院后180 d时,与对照组比较,安心颗粒组MIDAS、SF-36评分明显减低(P<0.05);组内与入院时比较,两组出院前1d、出院后180 d时,MIDAS、SF-36评分均降低(P<0.05).两组患者在随访期间均无大量出血、少量出血、重度和极重度血小板减少症发生,安心颗粒组有4例、对照组有7例发生不明显出血(P>0.05).两组发生轻度血小板减少症的患者数比较无差异(P>0.05).结论:PPCI使用安心颗粒,能改善急性ST段抬高型心肌梗死患者的生活质量,且不增加出血风险.  相似文献   

20.
Objective:To investigate the influences of urapidil and nicardipine on rabbit sinus function,atrio-ventricular node function and hemodynamics.Methods:Thirty-two Angora's rabbits were selected and randomly divided into four groups.U1 group:urapidil 0.25 mg/kg;U2 group:urapidil 0.5 mg/kg;N1 group:nicardipine 10 μg/kg;N2 group:nicardipine 20 μg/kg.All these medicine were administrated within 30 seconds.Measurements were taken before and after the administration of urapidil or nicardipine for the following data:mean blood pressure(MAP),heart rate(HR),sino-atrial conduction time(SACT),maximal sinoatrial recovery time(SNRTmax)corrected sinus node recovery time(CSNRT),index of sinus node recovery time(SNRTI),Wenckebach A-V conduction frequency (WB),and P-R interval.Results:Significant MAP and HR changes were identified in all of the four groups before and after administration of both urapidil and nicardipine.No significant changes could be found in the rest of the parameters.Intergroup analysis showed that SACT and CSNRT of N1 and N2 groups were shorter than those of the U2 group(P<0.01);the MAP decreased(P<0.01)and the HR increased drastically(P<0.01).Conclusions:Neither urapidil(0.25 mg/kg,0.5 mg/kg)nor nicardipine(10μg/kg,20μg/kg)has any significant influence on rabbit sinus function or rabbit atrio-ventricular node function.Nicardipine could be a better choice than urapidil for parafunctional sinus node patients.  相似文献   

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