正常人及胃癌患者胃蛋白酶原C基因多态性研究

以ＰＧＣ３０１为探讨，对１０例胃癌组织及１１例正常人体组织基因组ＤＮＡ中胃蛋白酶原Ｃ基因的ＥｃｏＲ Ｉ限制性片段长度多态性作了观察分析。发现在正常人体有三种常见等位片段，分别为２０ｋｂ、５．７ｋｂ及３．６ｋｂ；一种稀有片段，３．５ｋｂ。在胃癌患者，未发现与正常人体不同的等位片段。但是，稀有片段及稀有杂交带型的出现频率高于正常组。这一结果对深入探讨胃蛋白酶原Ｃ基因稀有片段及稀有杂交带型对胃癌的诊断价     

Ha-ras在正常人和胃癌患者DNAs的限制性片段长度多态性研究

以癌基因 Ha-ras 为探针,对10例正常人组织和22例人胃癌组织的 DNA 用限制性内切酶 Bam HI 酶切后,再通过瑟慎印迹法(Southern Blot)杂交,发现正常组织中的 Ha-ras 常见等位片段的出现频率高于胃癌组织,而稀有等位片段的出现频率低于胃癌组织;正常组织中Ha-ras常见等位基因纯合子的出现频率高于胃癌组织,而稀有杂合子的出现频率低于胃癌组织。提示 Ha-ras 限制性片段长度多态性(RFLPs)和胃癌可能存在着连锁关系。     

中国人胃癌组织和正常组织基因组DNA中癌基因Ha—ras的RFLP研究

本文报道以 pHS-49为探针,分析中国人群中36例胃癌患者癌组织和25例正常人体组织基因组 DNA 中 Ha-ras 基因的 BamHI 限制性片段长度多态性。发现了10种不同长度的等位片段和17种基因型,其中4种小于6kb 的 BamHI 片段是迄今国外未见报道的,这可能是中国人群遗传多态性的一个特征。此外,在胃癌组织中发现 Ha-ras 的一些等位基因和基因型的频率明显高于正常人群。对两名胃癌患者家系中的11名成员作了RFLP 分析,发现有些成员出现3条和4条限制性片段的杂合个体,表明这些个体的染色体上含有的 Ha-ras 基因不止一份拷贝。对上述现象的可能原因作了分析和讨论。     

应用6种人癌基因探针进行肝癌胃癌与脑瘤转化基因的RFLPs和扩增及重排的研究(摘要)

本文应用c-Ha-ras-1、N-ras Wigler(左段)和P~(52c-)(右段)、c-sis、erbB、c-myc和V-fos六种癌基因作探针,用瑟慎印迹和斑点杂交两种方法研究了94例胃癌、肝癌和脑瘤DNA的限制性片段长度多态性(RFLPs)、基因扩增和基因重排情况,和85例正常人组织杂交结果相比,发现了国内外未见报道过的癌基因等位片段。在肝癌中用N-ras作探针,ECORI酶解的杂交结果发现4kb、7.8kb、12kb和12.8kb等位片段。     

甘肃武威地区胃癌发病风险与IL-6基因多态性的相关性研究

目的探讨IL-45基因多态性与甘肃武威地区胃癌患者的易患相关性。方法对2006年10月—2008年12月来自武威地区142例胃癌进行研究,200例本地健康人作为对照,采用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）检测胃癌标本及静脉血的IL-6．174位点基因多态性,分析其与胃癌发病风险的相关性。结果142例胃癌患者中发现IL-6-174位点G／G基因型的频率为73．9％,对照组为99％;G／C基因型频率为26．1％,对照组为1％（P〈0．05）。两组中均未发现C／C基因型。结论IL-6—174位点G／C基因型与甘肃武威地区人群的胃癌发病风险有相关性。     

原发性胃癌等位基因丢失的研究

本实验选择了３个ＤＮＡ探针，对胃癌病人最可能发生改变的３对染色体的基因位点进行了等位基因的丢失研究。应用于限制性片段长度多态性分析了３２例原发性胃癌及其癌周正常胃粘膜组织的等位基因变化。     

广西地区胃癌与P53基因突变关系的初步研究

用聚合酶链式反应－限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）技术检测８例胃癌及１例正常胃组织Ｐ５３基因有２４９密码子点突变，结果未发现异常，提示Ｐ５３基因第７外显子第２４９密码子点突变不是本地区胃癌Ｐ５３基因突变的常见类型。     

应用6种人癌基因探针进行肝癌、胃癌与脑瘤转化基因的RFLPs和扩增及重排的研究

本文应用c-Ha-ras-1、N-ras wigler(左段)和P~(52-c)(右段)、c-sis、v-erbB、c-myc和v-fos六种癌基因作探针,用瑟慎印迹杂交和斑点杂交两种方法研究了94例胃癌、肝癌和脑瘤DNA的限制性片段长度多态性(RFLPs),基因扩增和基因重组情况。和85例正常人组织DNA的杂交结果相比,发现了一些国内外未曾报道过的癌基因等位片段。其中有些等位片段只在癌组织DNA中富集。两个癌患者家系中病人的一级亲属的RFLPs分析表明,这些成员中罕见的癌基因等位片段明显高于正常人群。同时我们在一些肿瘤中还发现有癌基因扩增和重排现象。     

胃癌及其癌前病变相关基因差异表达的研究

目的 探讨与人胃癌发生密切相关的基因片段。方法 本研究应用荧光mRNA差异显示技术分析胃癌（3例）、胃癌前病变（3例）和正常胃黏膜（3例），鉴别并分离差异表达的基因片段，进行PCR再扩增。将扩增的cDNA片段克隆后进行测序，测序结果提交GenBank，经BLAST软件检索进行同源性分析。应用生物信息学技术确定基因在染色体中的定位。结果 发现1个差异表达的cDNA片段，在胃癌组织和癌前病变中高表达，初一步定位于17号染色体，在GenBank数据库中与RP11-25705克隆高度同源，但其具体功能目前尚不清楚。结论 本研究发现的1个基因片段在胃癌组织和癌前病变中高表达，可能参与了胃癌的发病过程。     

人胃癌c—Ha—ras基因的限制片段长度多态性

以~(32)P-dATP 标记的克隆的人 c-Ha-ras 基因为探针,通过 Southern吸印杂交,鉴定了 c-Ha-ras 基因座位在胃癌患者瘤组织及其远端组织 DNA 中,3种 Bam HI 限制片段长度的多态性,并在2个病例中发现了可能的移位。     

Knee locking secondary to osteochondral fracture of the patella: an unusual presentation

Acute locking is a sign of internal derangement of the knee and is an orthopaedic surgical emergency. Differential diagnoses of this condition are torn meniscus, intra-articular loose bodies and torn anterior cruciate ligament. We present a 15-year-old schoolboy who developed acute locking of the knee during dancing. Arthroscopy revealed that he had sustained an osteochondral fracture of the patella and the loose fragment from it caused locking of the knee. That this was not pseudo-locking was confirmed by examination of the knee under anaesthesia. Locking of the knee by a loose osteochondral fragment following acute dislocation of the patella, though rare, should be considered as a possible cause of true locking.     

Successful removal of a ruptured silastic percutaneous central venous catheter in a tiny premature infant

The spontaneous rupture of a Silastic catheter is a rare occurrence. We describe our experience of managing a tiny premature infant with embolization of a Silastic percutaneous central venous catheter (PCVC) and discuss the possible mechanisms of the embolization. A 28-week, 980 g, preterm male infant received a Silastic PCVC (Epicutaneo Cava Catheter, Vygon, Germany) for parenteral nutritional support at 4 days of age. The catheter was introduced percutaneously and advanced without difficulty through the right antecubital vein, and was subsequently withdrawn 2 cm following confirmation of tip position using radiography. A following chest radiograph, taken 15 hours later, showed rupture of the catheter, and an echocardiogram revealed a piece of the catheter had lodged between the right atrium and the right ventricle. The dislodged fragment of the catheter was retrieved successfully using a snare catheter (Microvena, White Bear Lake, Minn) by a pediatric cardiologist without complications. We want to stress that clinicians should be aware that rupture of the catheter is rare and can also occur asymptomatically and that an embolized fragment can be safely removed without extensive surgical manipulation, even in a tiny premature infant.     

一种新的3.8 kb缺失α地贫基因的鉴定

目的 首次报道一种新的3.8 kb缺失α地贫基因,利用gap-PCR技术建立该缺失片段检测方法.方法 采集先证者及其母亲外周血,进行血液学参数常规地贫基因检测,对常规基因检测结果存在疑问标本重新设计新gap-PCR引物及体系以测试发现证实新的缺失α地贫基因类型.结果 先证者检出新的α珠蛋白基因缺失,缺失片段大小为3814 bp,确认先证者α地贫基因型为-α4.2/-α3.8,其母亲基因型为αα/-α3.8.结论 本研究首例报告了一种新发现的3.8 kb缺失α地贫基因,丰富了世界地中海贫血突变基因数据库,特异性gap-PCR的建立为该类型地贫基因检出提供方便、有效的检测手段.     

Isolated cryptococcal osteomyelitis in immunocompetent patient

Cryptococcosis is a common opportunistic infection in AIDS patients. Almost all cases present with meningitis with or without fungaemia. Cryptococcal osteomyelitis occurs as part of a disseminated infection. Isolated cryptococcal osteomyelitis is rare and more so in immunocompetent patients. A case of isolated osteomyelitis caused by Cryptococcus neoformans in an immunocompetent patient is reported here. A female patient of 60 years old presented with pain and swelling of left clavicle. The histopathological examination of the biopsied material (bony fragment) showed histiocytes, lymphocytes with many foam cells showing organisms, the morphology was consistent with cryptococcus. Fluconazole was advised and she responded favourably.     

间日疟原虫深圳株红内期SSUrDNA基因片段的克隆与序列分析

目的 体外扩增间日疟原虫深圳株红内期小亚单位核糖体核糖核酸编码基因(SSUrDNA)片段，研究其结构与功能。方法 设计一对特异性引物，采用聚合酶链反应(PCR)从间日疟原虫患者血样中扩增出间日疟原虫SSUrDNA片段，以PUC19质粒T载体构建重组子导入大肠杆菌JM109；阳性克隆双酶切鉴定后，双脱氧末端终止法测定序列。结果 间日疟原虫SSUrDNA扩增片段大小为341bp；阳性克隆双酶切及PCR扩增均得到预期大小的片段；序列测定插入片段为341bp，与Sal I株顺序相比，仅在第151位处缺失一个碱基C。结论 成功克隆了间日疟原虫SSUrDNA片段．该序列在间日疟原虫虫株间高度保守。     

中国人动脉粥样硬化性脑梗塞与载脂蛋白B基因多态性关联的研究

目的:为观察中国人载脂蛋白B基因变异的频率及其与动脉粥样硬化性脑梗塞(ACI)的关联。方法:本文采用聚合酶链反应(PCR)对110例ACI患者及22例健康人的载脂蛋白B基因XbaI酶切位点限制性片段长度多态性(RLEP)进行了研究。结果:ACI患者及正常人均以X--为主要基因型,少见X -式团型,未见X 基因型,两组人群基因型分布处于Hardy-Weinberg平衡之中(P>0.05);少见的X 等位基因,其频率非常显著低于白种人(P均<0.01);ACI组X 等位基因频率明显高于正常对照组(0.057vs0.025,P<0.05);ACI组具有X -基因型与X--基因型者比较,血清ApoB水平明显升高(P<0.05);ACI组与对照组比较,血清总胆固醇、甘油三酯和低密度脂蛋白水平显著升高,高密度脂蛋白及载脂蛋白AI及载脂蛋白AploAL/ApoB比值显著降低。结论:载脂蛋白B基因XbaI位点 X 等位基因,与 ACI发生可能有一定关联;通过升高 ApoB水平进而影响脂质代谢,增加动脉粥样硬化的易感性。     

First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13

Although the use of a gene specific deoxyribonucleic acid (DNA) probe is the method of choice for detecting carriers of genes for rare genetic disorders, there will always be families in which such probes cannot be used because key subjects are not informative for restriction fragment length polymorphisms in or around the gene. In these cases closely linked DNA markers have to be used. An X chromosome specific DNA probe, DX13, which is closely linked to the haemophilia A locus on the X chromosome, was used for early prenatal diagnosis in two cases and to detect carriers in a series of nine possible heterozygote women. The first reported crossover between DX13 and the factor VIII:C locus was observed in this study. There are complexities inherent in using any linked DNA probe for assignment of genes, but such techniques are clinically important.