慢性乙型肝炎和性传播疾病人群中辅助受体基因多态性的检测及分布特点

本课题研究乙型肝炎、HIV-1感染者和性病患者中CCR5，CCR2和SDF1等位基因的分布及其特点。我们通过收集乙型肝炎患者(268例)、艾滋病感染者(130例)和性病(259例)的血液标本共657份，应用QIAGEN全血细胞基因组提取试剂盒，分离纯化人血细胞基因组DNA样品。应用PCR或PCR～RFLP分析CCR5，CCR2-64I和SDF1-3’A等位基因突变频率和分布特点。研究结果表明：在乙型肝炎、性病和HIV-1感染者人群中，CCR5A32的突变频率分别为0．19％、0％和0％。在259例个体性病患者中只有1例男性发生了杂合子突变，而在乙型肝炎和HIV-1感染者人群中没有检测出CCR5△32突变基因，可见，CCR5△32的突变率较低。反之，CCR2-64I的突变频率较高，与前述3种病人对应的突变频率分别为19．3％、19．6％和20．7％。进而分析发现SDF1-3’A等位基因在乙肝、性病和HIV-1感染人群中的突变率分别为27．8％，27．4％和26．9％。应用X^2检测与统计学分析显示在乙肝，性病和HIV-1感染人群中CCR2-64I和SDF1-3’A等位基因突变分布之间无连锁关系。小结：突变频率很低的CCR5△32基因型在上述3种类型传染病的发病过程中可能不起主要作用；而突变频率较高的CCR2-64I和SDF1-3’A基因型的功能及其在上述3种传染病进程中的意义有待进一步研究。     

中国汉族人群中HIV抗性的CCR5-△32、CCR2-64和SDF1-3′A等位基因型和多态性研究(英文)

目的　为了评估中国汉族人群对HIV感染的遗传易感性 ,我们检测和分析了相应人群的CCR5 △ 32、CCR2 6 4I和SDF1 3’A等位基因的突变频率和多态性。方法　被研究的人群包括 12 5 4例中国普通汉族人 (918例男性、336例女性 ) ,年龄范围在 15 - 80岁之间 ,他们中没有HIV感染者。应用PCR和PCR/RFLP等分子生物学方法检测了CCR5 △ 32、CCR2 6 4I和SDF1 3’A等位基因型 ,用直接DNA测序法进一步证实其准确性。结果　我们发现在汉族人的CCR5基因编码中的确存在△ 32碱基缺失突变 (频率为 0 0 0 119,n =12 5 4) ,并可能经过孟德尔方式遗传 ;而CCR2 6 4I和SDF1 3’A等位基因的突变频率分别是 0 2 0 0 2 3(n =12 5 1)和 0 2 873(n =893)。可见汉族人群的CCR2 6 4I和SDF1 3’A突变频率高于美国白人 ,并且在基因多态性组成上与美国白人不同。统计学分析表明中国汉族人群中上述三个等位基因型的分布符合Hardy Weinberg平衡。结论　上述结果提示中国汉族人群中CCR5 △ 32遗传突变可能不是抗HIV感染的主要因素 ,因此汉族人群对性传播的R 5病毒株可能有较大的遗传易感性。中国汉族人群具有较高的CCR2 6 4I和SDF1 3’A等位基因突变频率及其在抗HIV感染中的意义尚待阐明     

LAIR1基因3’端非翻译区多态性与胃癌发病风险的关系研究

目的分析人白细胞相关免疫球蛋白样受体1（LAIR1）基因3’端非翻译区（3’UTR）多态性与胃癌发病风险的关系。方法选取经胃镜下组织活检确诊的121例胃癌患者为胃癌组,另取同期收治且年龄、性别相匹配的126例慢性胃炎患者为对照组。采用一代测序法检测并比较两组患者LAIR1基因3’UTR的单核苷酸多态性（SNP）位点基因分布频率,同时分析胃癌患者LAIR1基因3’UTR的多态性与肿瘤分化程度的关系。结果胃癌组患者rs199714928位点G/A基因型及等位基因A分布频率均明显低于对照组（均P＜0.05）,G/G基因型及等位基因G分布频率均明显高于对照组（均P＜0.05）。胃癌组rs1054033与rs6509867位点均存在完全单倍型连锁现象,而对照组有16例存在不完全单倍型连锁现象（P＜0.05）。胃癌低分化患者rs3826753/rs3826754位点A/A基因型及等位基因A分布频率均明显低于中高分化者（均P＜0.05）,等位基因G分布频率明显高于中高分化者（P＜0.05）;不同性别、肿瘤类型、TNM分期、淋巴结转移阳性率患者LAIR1基因3’UTR的SNP位点基因分布频率比较,差异均无统计学意义（均P＞0.05）。结论LAIR1基因3’UTR的rs199714928位点多态性可能是胃癌发生的易感因素;rs1054033与rs6509867位点存在不完全单倍型连锁（T-G单倍型）可能是一种保护机体抵抗胃癌发生的有利因素。     

急性心肌梗死患者凝血酶原基因G20210A变异频度分析

目的：探讨FⅡG20210A突变在中国人群中的分布频率及其与急性心肌梗塞之间的联系，方法：运用FⅡG20210A等位基因特异性引物PCR，结合限制性内切酶技术及聚丙烯酰胺凝胶电泳等方法检测97例急性心肌梗塞患者及107例正常人对照的FⅡG20210A基因频率，结果：未检出1例FⅡG20210A基因突变者，提示被检病例及正常人FⅡG20210A基因变异频率为0，结论：在中国人群中FⅡG20210A基因变异罕见甚至缺如，FⅡG20210A基因突变不足以成为中国人急性心肌梗塞的危险因素。     

HIV-1感染者及其密切接触者HIV-1抗性基因的研究

目的:研究CCR2-64I、SDF1-3'A2种HIV-1抗性基因在山东省HIV-1感染者及其密切接触者中的分布,以及它们对艾滋病病程进展和人群易感性的影响。方法:利用体外扩增PCR和限制性片段长度多态性分析RFLP检测目标人群中的HIV-1抗性基因,用统计学方法分析基因分布频率与病程进展和易感性的关系。结果:CCR2-64I、SDF1-3'A的突变频率分别为23.64%、23.94%,含SDF1-3'A1的患者平均潜伏期为(8.33±1.16)年,含CCR2-64I患者平均潜伏期为(8.94±1.17)年,野生纯合子患者为(7.42±1.33)年。结论:本研究首次阐明了CCR2-64I、SDF1-3'A在山东省HIV-1感染者及其密切接触者中分布的特点,并发现2种抗性基因的存在均可延缓感染者的病程。     

中国畲族人群DYS287位点多态性的研究

目的：分析Y染色体特异的Alu插入位点DYS287的遗传多态性。并对江西，浙江和福建三省不同地区的畲族人群Alu插入频率进行比较。方法：以中国畲族群体的117名男性个体为研究对象，采用PCR-SSP法扩增后琼脂糖凝胶电泳分离的方法检测结果。结果：我国畲族人群中Alu插入的基因频率为17.1%，江西，浙江入福建三省不同地区的畲族人群中Alu插入频率无显著差异。结论：DYS287位点作为一种稳定，可靠的遗传标记可以为研究民族间的遗传关系及其起源提供可靠的证据。     

福建汉族和畲族人107例线粒体DNA 11719位点遗传多态性研究

目的：了解福建省汉族和畲族人线粒体DNA11719位点的变异情况。方法：采集107位正常汉族及畲族人外周静脉血，提取线粒体DNA，经聚合酶链反应，并进行DNA序列测定。结果：受检的107例正常汉族及畲族人均存在线粒体DNA11719G→A改变（GGG→GGA，均编码甘氨酸）。结论：线粒体DNA11719G→A变异可能是福建省汉族和畲族人常见的一种遗传多态性。     

云南省傣族、景颇族人群HIV-1感染相关基因多态性研究(摘要)

目的：了解云南省傣族、景颇族人群中HIV-1感染相关基因CCR5-△32、CCR2-64I、SDF1-3′A的频率和多态性分布。方法：以云南省101例傣族和113例景颇族人为研究对象。采用PCR、PCR/RFLP（聚合酶链式反应／限制性片段长度多态性分析），计算突变基因频率，并用统计学方法进行分析。结果：两民族中均未发现CCR5-△32突变；傣族CCR2-64I突变基因频率为21％。     

畲族ABO血型基因频率调查

从江西，浙江和福建三省中随机抽取三代均为畲族的１２０例无关个体测定其ＡＢＯ血型，结果为Ａ型２４人，Ｂ型３８人，Ｏ型５１人，ＡＢ型７人；基因频率为：ｐ＝０．１３８８，ｑ＝０．２０９４，ｒ＝０．６５１８。本文较全面了反映了畲族ＡＢＯ血型的分布特点，为研究畲族的起源与变迁提供了有价值的资料。     

老年艾滋病群体婚外性行为调查分析

目的：调查湖北省大冶市老年艾滋病群体婚外性行为现状,分析原因并讨论预防保护措施。方法：统计2009—2013年60岁及以上老年艾滋病患者中婚外性行为者所占比例及其性别比例、居住环境、受教育程度、婚姻状况、有无安全措施。结果：2009—2013年,大冶市老年 HIV 感染者或艾滋病患者检出率由25.0%增加到51.7%;老年患者中,婚外性行为者由70.0%增加到77.4%,其中,男性由85.7%增加到91.7%,未使用安全套者由100.0%降至95.8%,多数患者居住于乡镇,以小学文化程度和已婚有配偶为主。结论：婚外危险性行为已成为老年群体感染艾滋病的主要传播方式,关爱老年群体,加强宣传教育,普及安全性行为知识已成为亟待解决的新问题。     

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.     

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.     

安心颗粒对急诊经皮冠状动脉介入术后生活质量影响的研究

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.     

The comparative studies of the influences of Urapidil and Nicardipine on sino-atrial node function, atrio-ventricular node function and hemodynamics

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.     

Expression of OPGmRNA and ODFmRNA in the patients of hip fracture due to osteoporosis

Objective：To investigate the gene expression of osteoprotegerin（OPG） and osteoclast differentiation factor（ODF） in the bone tissue of patients with hip fracture due to osteoporosis. Methods：OPGmRNA and ODFmRNA in the bone tissue in 50 cases of osteoporosis sufferers（over 50 years old） with hip fracture（Observer Group） and 30 cases of hip facture sufferers with no osteoporosis（Control group） were analyzed with the Semi-Quantitative RT-PCR method. Results：The mRNA expressed of ODF, OPG were both high in the patients with hip fracture. In the control group, the expression of OPG mRNA was observed, while the expression of ODF mRNA was very slight. Conclusion：Aged patients contained all signals including OPG, ODF that are essential for inducing osteoclastogenesis and promoting bone resorption.     

The clinicopathological and immuohistochemical analysis of solid-pseudopapillary tumor of the pancreas： report of 9 cases

Objective：To investigate the clinical features, pathological characteristics and immunophenotype of solid-pseudopapillary tumor of the pancreas（SPTP）. Methods：Nine surgically treated cases of SPTP were retrospectively reviewed. Hematoxylin and Eosin（HE） staining and immunohistochemical staining were used to analyze all cases, and the general clinical data was collected. Results：Six patients were asymptomatic except for a palpable mass. Two patients complained of vague-epigastric pain. One patient appeared jaundice. The tumor was encapsulated and solid tissues alternately with cystic tissues. Histologically, the histological structure of solid portion was pseudopapillary with a fibrovascular core. Tumor cells were uniform and medium-sized which were arranged in sheets ets or nests or pseudopapillary patterns. Immunohistochemical studies demonstrated that SPTP proved positive in vimentin（9/9 cases）, AAT（9/9 cases）, NSE（9/9 cases）, ACT（7/9 cases）, CK20（2/9 cases）, CgA（1/9 cases）, S-100（3/gcases）, PR（4/gcases）, Syn（3/9 cases） and CD56（5/9cases）, negative in CEA and ER. Conclusion：SPTP is a tumor predominantly occurring in young women frequently without special symptoms. This tumor has various characteristical histological patterns with different immunophenotype.     

Dynamic Changes in Serum Estradiol and Progesterone levels in Patients of Premenstrual Syndrome with Adverse Flow of Liver-qi

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.     

Real-time Three-dimensional Echocardiography in Assessment of Left Ventricular and Right Ventricular Volumes

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.     

SCREENING FOR A 21-CHROMOSOME ABNORMALITY IN PREIMPLANTED EMBRYOS OF ELDERLY WOMEN

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.