常染色体STR鉴定同胞的应用探讨

【目的】探讨常染色体STR遗传标记鉴定两个体同胞关系的可行性。【方法】用PowerPlex^TM 16体系15个常染色体STR基因座检测50对全同胞、25对半同胞和50对无关个体，ITO法计算全同胞关系指数（PSI）、半同胞关系指数（HSI）和PSI：HSI值，比较3组两个体间等位基因匹配情况，并进行组间差异的x^2检验。【结果】全同胞的FSI均大于1；19对半同胞的HSI大于1；无关个体FSI均小于1；49对无关个体HSI小于1，1对为1．297。46对全同胞的FSI：HSI值大于1，22对半同胞的FSI：HSI值小于1。全同胞组两个体间1对等位基因全相同、半相同、全不同的基因座数平均值分别为6．06个、7．52个、1．42个；半同胞组分别为2．96个、8．48个、3．56个；无关个体组分别为1．24个、7．22个、6．54个。x^2检验3组两个体间1对等位基因全相同和全不同的基因座数差异有显著意义，半相同的基因座数差异无显著意义。【结论】PowerPlex^TM 16体系在全同胞一无关个体的鉴定中效率较高，在鉴定半同胞一无关个体或全同胞一半同胞时效率降低。全同胞一半同胞关系鉴定时，PSI：HSI值是一个较有效的指标：大于1倾向于为全同胞，小于1倾向于为半同胞。     

D3S1358等9个STR基因座在同胞鉴定中的应用

目的 探讨D3S1358等9个常染色体STR基因座用于鉴定两个体间同胞亲缘关系的可行性.方法 用复合PCR扩增方法检测D3S1358等9个STR基因座的基因型,运用ITO法和IBS法两种分析方法计算两个体间的同胞亲权关系指数(paternity index,PI)和同胞亲权关系概率RCP(relative chance of paternity,RCP),并比较两个体间全相同、半相同和全不同的基因座数.结果 同胞个体间RCP值均值显著高于非同胞个体(P＞0.05).同胞对全相同的基因座个数平均值＞3,全不同的基因座个数平均值＜2;而无关个体间全相同的基因座个数平均值＜1,全不同的基因座个数平均值＞3.结论 检测和分析D3S1358等9个STR基因座的基因型可以应用于同胞鉴定:以RCP≥95%或者以基因型全相同基因座数≥4或全不同基因座数≤1为肯定标准;以RCP≤5%或者以基因型全相同基因座数=0或全不同基因座数≥4为排除标准.     

染色体STR遗传标记在亲缘鉴定中的应用

目的：探讨染色体STR遗传标记在亲缘关系鉴定中的应用。方法：用Profiler plus及Cofiler试剂盒检测468例亲缘鉴定案,对其中STR基因座不符合遗传规律者,增加HLA等血型基因和“PowerPlex16TM体系试剂检测。必要时还增加Y-STR,X-STR基因座检测和HLA等位基因测序。结果：408例亲缘个体的亲权概率W>0.95,其中350例亲缘个体的W>0.9995;60例无关个体的W<0.8,其中48例W<0.27。经χ2检验,有亲缘关系的个体和无亲缘关系的个体间全相同和全不同的基因座数差异均有统计学意义（P<0.001）;半相同的基因座数差异无统计学意义（P>0.05）。结论：染色体STR遗传标记用于鉴定亲缘关系时,当两个体不同基因座个数≤1个,或全相同基因座数≥6个时,属亲缘关系。     

河南汉族人群同胞兄弟短串联重复序列多态性测定

目的:探讨Y染色体短串联重复序列(Y-STR)位点和常染色体STR位点联合用于鉴定同胞兄弟关系的可行性.方法:PCR复合扩增河南汉族80对同胞(包括34 对兄弟)和80对无关个体(包括51对男性无关个体)的7个Y-STR位点(DYS19、DYS385、DYS389 Ⅰ、DYS389 Ⅱ、DYS390、A7.1和H4)和13个常染色体STR位点(CSFIPO、TPOX、THOI、F13AOI、VWA、D16S539、D7S820、D13S317、D18S51、D3S1358、D21S11、D8S1179和D5S818),比较同胞组和无关个体组等位基因的匹配情况.结果:不同家系的同胞对和无关个体有相同单倍型出现.选取13个常用的常染色体STR位点检测,同胞组和无关个体组分别有5对和15对不能判断.联合运用这20个位点,仅有5对同胞不能确定.结论:Y-STR位点与常染色体STR位点联合用于同胞兄弟鉴定可以大大提高准确率.     

6个STR基因座在广东潮汕地区汉族人群多态性研究

目的调查6个STR基因座在中国广东潮汕地区汉族人群中的基因频率分布。方法应用四色荧光标记引物复合扩增技术对251名广东潮汕地区汉族无关个体血样的6个STR基因座进行多态性研究。结果在广东潮汕地区汉族人群中6个STR基因座个体识别概率在0．798到0．925之间，杂合度在0．645到0．765之间，多态性信息含量在0．567到0．758之间。6个STR个体识别概率基因座总值为0．999994。所有基因座经x^2检验符合Hard～Weinberg平衡。结论上述6个STR基因座在广东潮汕地区汉族人群中等位基因分布较好，个体识别率高，适合法医个体识别和亲子鉴定。     

24 个常用STR基因座的突变观察与分析

 【目的】 观察24个常用STR基因座等位基因突变的现象及特点&;#65377; 【方法】 对5 084例肯定亲权关系的案例进行分析,筛选等位基因突变事件,确定突变等位基因的来源,统计各STR基因座的突变率,分析突变的规律及其特点&;#65377; 【结果】 在24个STR基因座中共观察到172个突变事件,STR基因座的突变率介于0 ~ 0.492%&;#65377;每个突变案例的突变基因座数目为1 ~ 3个&;#65377;突变模式符合逐步突变模式,最多突变步数为四步&;#65377;父系突变与母系突变比例为3.55:1&;#65377; 【结论】 STR基因座等位基因突变现象较为常见&;#65377;当出现STR基因座突变时,应结合突变的STR基因座信息计算PI值&;#65377;     

IBS法在云南人群全同胞鉴定中的应用

目的 探讨IBS法在全同胞鉴定中的实践应用情况.方法 采用PowerPlex21System试剂盒中的19个亲权鉴定中常用的常染色体STR基因座对234对确定为“全同胞”关系和200对无关个体样本的进行基因分型检测,分型结果依据《生物学全同胞关系鉴定实施规范》(2014版)计算IBS值.结果 生物学全同胞认定率为82.91%,比规范中75%的检测系统效能略高,有17.09%的样本无法给出倾向性意见;无关个体间13相似文献   

应用复合荧光标记STR—PCR排除绒毛取材中母体细胞污染

【目的】探讨复合荧光标记STR—PCR鉴别胎儿取材中母体细胞污染的价值。【方法】复合荧光标记STR—PCR检测16个基因座，针对常见STR基因座进行多态性分析，比较52例待鉴定绒毛样品的谱带。【结果】52例标本中，有46例无母体细胞污染，5例为母体细胞污染，1例是全部为母体细胞。鉴定结果与随访结果一致。【结论】用复合扩增荧光标记STR—PCR方法可准确判断胎儿取材中有无母亲DNA的污染。     

三个STR分型体系在法医学中的应用

摘 要:【目的】 调查PowerplexTM 16 System?STRtyper-10F/G kit以及AGCU 21+1三个分型体系包含的45 个常染色体STR 基因座在中国广东汉族人群中的群体遗传学数据,评估其法医学应用价值?【方法】 采集256例中国广东汉族二代家系(包含512名无关个体)外周血样,提取样本DNA,对D3S1358等45个STR基因座进行扩增,使用ABI 3500XL遗传分析仪电泳扩增产物,GeneMapper ID-X软件进行基因分型,并用相关统计软件计算常用法医学参数并进行Hardy-Weinberg平衡及基因座间连锁不平衡的检验? 【结果】 经Bonferroni 法校正后,45个STR基因座的基因型分布均符合Hardy-Weinberg平衡,不存在连锁不平衡现象?各基因座平均杂合度(Ho)为0.765,平均个体识别力(DP)为0.905,平均多态信息含量(PIC)为0.733?45个STR基因座的累积随机匹配概率(CMP)为9.48 × 10-50,二联体累积非父排除率(CPEduo)为0.999 999 999 94,三联体累积非父排除率(CPEtri)为0.999 999 999 999 999 990 4?【结论】 获得了广东汉族人群45个常染色体STR 基因座的群体资料,为广东汉族人群的法医个体识别和亲子鉴定提供了基础数据?联合应用PowerplexTM 16 System?STRtyper-10F/G kit和AGCU 21+1 系统可以满足突变?单亲?亲缘鉴定等疑难案件的需要?     

基于二代测序平台的法医STR分型

目的探究二代测序(NGS)技术平台在法医短串联重复(STR)分型中的应用。方法采集402个广东汉族无关个体样本,基于Ion PGM测序平台,对15个STR基因座(D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D21S11、CSF1PO、FGA、TH01、TPOX、v WA、D2S1338和D19S433)进行序列测定和基因分型。分析基于STR重复序列多态性检出的STR等位基因,计算其等位基因频率,评估法医学应用效能。结果在15个STR基因座中共检测到202种不同重复序列的等位基因。在D3S1358、D5S818、D13S317、D21S11、FGA、v WA、TH01等7个基因座中检测到54种长度相同而重复序列不同的等位基因亚型,基于重复序列多态性分析的STR分型技术的杂合度、个体识别力、多态信息含量、非父排除率等法医学参数均大于基于片段长度检测的STR分型技术,随机匹配概率小于基于片段长度检测的STR分型技术。结论基于NGS技术平台的STR分型技术提高了STR基因座的多态性和检测效能,具有很好的法医学应用价值。     

Value of D-Dimers in patients with acute aortic dissection

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.     

Research of combined liver-kidney transplantation model in rats

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.     

Development on Adjustable Calibration Marker for Shock Wave Focus

Shock wave lithotripsy （SWL） is a treatment of choice for upper urinary stones. However, this procedure is inappropriate for obese patients because the focus is often unable to reach the target owing to the limited focal distance in shock wave source. Although treating such patients in a blast path may increase the application length of shock wave source, it＇s difficult to find this path on the lithotripter monitor. For this reason, we invented an adjustable calibration marker in order to set an effective focus in the shock wave hath.     

Study on the TCM Pathogenesis of Angiopathic Complications of Type II Diabetes

Excess production of reactive oxygen species(ROS)of mitochondrion mediated by hyperglycemia is the common pathogenesis of angiopathic complications of diabetes.TCM holds that the damp from the dysfunction of spleen.kidney and liver is the causative factor of complications of diabetes.This is similar to the mechanism of Ros resulting in angiopathic complications of diabetes.When the angiopathic complications of type II diabetes mellitus(T2DM)are difierentiated as caused by turbid damp in TCM can be explained as ROS.Since the obstruction of pathogenic damp in channels and collaterals is said to be the main pathogenesis,the treating principle should be dissolving the damp to remove the obstruction.     

Leptin, Ghrelin and TNF-α before and after Hypo-caloric Traditional Chinese Diet and Auricular Acupuncture

INTRODUCTION Obesity is a complex emergent problem, which can be possibly solved not only by the diet but also by the life style and promotion of a constant physical exercise. 1, 2 No doubt careful attentions must be given to the nutritional condition of obese people, the dietary habits, the somatic build (i.e. distribution of fat mass) and the organic functions linked to formation of the fat mass. All the parameters should be constantly monitored before, during and after a diet treatment. 3, 4, 5     

BLOOD PRESSURE CHANGE WITH AGE IN SALT-SENSITIVE TEENAGERS

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.     

Relationship between Dysglycemia and Carotid Atherosclerosis in Tibetan Population

People with dysglycemia are at high risk for atherosclerotic diseases. This study aims at investigating the atherosclerotic vascular damage in dysglycemia and its metabolic origin in Tibetan population.     

APPLICATION OF LORNOXICAM TO PATIENT-CONTROLLED ANALGESIA IN PATIENTS UNDERGOING ABDOMINAL SURGERIES

FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…     

CLINICAL SIGNIFICANCE OF SERUM CYTOKINES IL-1β,sIL-2R,IL-6,TNF-α,AND IFN-v IN ACUTE CORONARY SYNDROME

Objectives To explore serum cytokines levels (including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v) and their significance in patients with acute coronary syndrome (ACS) and the subsequent follow-ups, with attempt to estimate the role of various serum inflammatory markers in the diagnosis and assessment of ACS.Methods The study population include 40 patients with acute myocardial infarction (AMI), 40 patients with unstable angina pectoris (UAP), and 40 controls. Among the 80 patients, 60 patients attended a follow up 4 months later. Serum inflammatory markers including IL-1 β, sIL-2R, IL-6, TNF-α, and IFN-v were measured by enzyme linked immunosorbent assay.Results Serum IL- 1 β, sIL-2R, IL-6, TNF-α were significantly higher in AMI group or UAP group compared to the control group and became significantly lower 4 months later in the follow-up patients. Serum levels of IFN-v shows no significant difference between AMI group or UAP group and controls, also showing no significant change when measured in follow up patients. There was no correlation between serum creatine kinase-MB isoenzyme levels and serum inflammatory markers either in UAP or AMI group. Furthermore, when divided into two subgroups using Wagner's QRS scoring system in the AMI group, there is no difference of each serum inflammatory marker between ≤ 6 scores group and ＞ 6 scores group.Conclusion Serum levels of certain inflammatory markers may have some diagnostic value for ACS, and can be a useful marker reflecting disease stability.     

Possible Spread of adenovirus type 3 from poultry to humans ：indirect evidence from an outbreak in China

Objective:To explore the epidemiology and etiology for an outbreak of acute respiratory tract infection that occurred in one county of Jiangsu Province, China 2004. Methods: Only cases meeting the case definition were included in the study. We reviewed the medical records of the cases who were admitted to the local hospitals, interviewed cases by a standard questionnaire, and then described the epidemiotogic features and analyzed risk factors by means of a case-control study. We collected pharyngeal swab specimens and sent them to different laboratories for isolation and culture. The laboratory used different detection methods such as DIP, PCR, electron microscope examination and microneutralization assay, to identify and then type the positive specimens. Results:A total of 871 cases were reported during the period from April 18 to July 4,2004. The distribution of onset times presented two peaks, one in late May and another in middle June. The epidemic occurred mainly in the elementary and junior high schools in ten townships of one county, and the mean age of the cases was 12 years (range 7 months to 18 years). The course of the disease was acute, and was characterized by fever accompanied with sore throat and tonsillitis. The WBC count of cases was normal or elevated. The mean duration of illness was 5 days (range 2 to 12 days). No fatalities from illness were reported. A case-control study indicated that the possible risk factors were close contact with a case and/or poultry before onset and sharing of towels among members of the family. The typical CPE was observed through inoculating pharyngeal swab specimens into the HEP-2 cell cultures in different laboratories. An infection of adenovirus type 3 was verified by detecting positive specimens in different methods. Conclusion:This investigation demonstrated that the acute respiratory infection in cases was caused by adenovirus type 3. Cases occurred in over 70 schools in ten townships in 2004, and the route of transmission was possibly close contact with cases or droplet transmission.