先天性肛门直肠畸形Hoxc-8基因表达的研究及其意义

目的　对先天性肛门直肠畸形 (congenitalanorectalmalformations,CAM )末端直肠组织Hoxc 8基因表达水平的测定以探讨其分子水平的发病机制。方法　应用RT PCR(逆转录 聚合酶链反应 )技术检测 32例CAM的末端直肠组织及 8例对照组直肠标本的Hoxc 8基因表达 ,以 β actin基因 (是一种在组织中表达稳定的基因 )作为阳性内对照 ,观察Hoxc 8基因的表达水平。结果　CAM组Hoxc 8表达的相对比值为 0 .892± 0 .0 6 8,对照组则为 1.0 0 6± 0 .0 82。Hoxc 8在CAM组的表达与对照组比较差异有非常显著性意义 ,P <0 .0 1。结论　CAM的发生与Hoxc 8基因密切相关 ,该基因在肛门直肠组织中表达减弱可能参与导致其相应的靶器官发育异常而产生畸形。     

联合转染p53与血管生成抑素基因对人胃癌细胞系SG7901生长的影响

目的探讨联合转染p53和血管生成抑素(AS)基因对人胃癌细胞系SG7901生长的影响。方法用脂质体转染法分别将p53、AS基因、p53和AS基因转染人胃癌细胞系SG7901。以RT-PCR法检测转染后细胞目的基因的表达,通过细胞集落形成实验、MTT生长曲线、细胞周期检测观察其生物学特性变化。结果p53或AS基因均能抑制转染细胞的生长,而联合转染两种基因的细胞生长抑制更明显。结论p53和AS基因具有协同抑制恶性肿瘤细胞生长作用,提示联合多种基因可能有利于恶性肿瘤的基因治疗。     

Molecular monitoring of tumour load kinetics predicts disease progression after non-myeloablative allogeneic stem cell transplantation in multiple myeloma.

BACKGROUND: Non-myeloablative allogeneic stem cell transplantation followed by immunomodulatory therapies is considered a potentially curative approach in the treatment of multiple myeloma and most effective in a minimal residual disease setting. PATIENTS AND METHODS: The aim of this study was to find the most sensitive real-time PCR assay (TaqMan), based on the IGH rearrangement, to quantify the tumour load of 11 patients with multiple myeloma after non-myeloablative allogeneic transplantation. Patient-allele specific primers (ASO) and the TaqMan probe were derived from CDR2 and CDR3 hypervariable regions of IGH, while consensus primers were located within the FR3 and FR4/JH regions. Four different approaches of primer combinations were tested. RESULTS: ASO-forward and -reverse primers together with the clone-specific TaqMan probe were the most sensitive approach compared with the JH (P=0.071) or the FR3 consensus primer (P <0.001). The detection limit amounted to 1/10(4)-1/10(5) cells. Consecutively, 120 samples from 11 patients prior and post allogeneic transplantation were analysed. Three patients reached complete clinical remission accompanied by molecular remission. Disease progression or relapse was seen in six patients. In five, molecular progressive disease was detected prior to the clinical diagnosis of progression or relapse. CONCLUSION: Patient-specific real-time IGH-PCR provides the opportunity for earlier treatment intervention.     

Primary retroperitoneal perirenal CIC rearrangement sarcoma: A case report

Primary retroperitoneal perirenal CIC rearrangement sarcoma is rare. The current case report presents a 69-year-old male patient with this pathology, including the clinical features, pathomorphology and immunohistochemistry, and CIC gene rupture detected by fluorescence in situ hybridization (FISH). Furthermore, the relevant literature was reviewed. Histologically, the tumor was composed of diffuse nests of small- to medium-sized juvenile round blue cells with hyperchromatic nuclei, prominent nucleoli and occasional mitotic signs. The tumor involved adipose tissue with no obvious hemorrhagic necrotic foci. Immunohistochemistry indicated scattered expression of CD99 in tumor cells. FISH examination suggested that the CIC gene was fragmented and translocated.     

增生性玻璃体视网膜病变的基因研究进展

目的增生性玻璃体视网膜病变(PVR)是一类复杂的眼科疾病,手术和药物治疗都存在缺陷,而随着分子生物学的发展,该病的基因研究也有了一定的进展,为进一步的相关治疗提供了理论基础。本文就PVR发展中的基因表达情况及有关应用研究作一综述。     

不同载体介导的绿色荧光蛋白基因在大鼠颌下淋巴结的表达

目的探讨阳离子聚合物Sofast基因转染试剂(Sofast)和阳离子脂质体Lipofectamine2000(Lipo)经不同途径向大鼠转入绿色荧光蛋白基因(PEGFP-N2),观察其在颌下淋巴结(SMLN)的表达。方法45只Wistar大鼠随机分成9组:Lipo/DNA前房注射组(A)、结膜下注射组(B)、颞下方穹隆部注射组(C)和下睑皮下注射组(D);Sofast/DNA前房注射组(E)、结膜下注射组(F)、颞下方穹隆部注射组(G)、下睑皮下注射组(H)和阴性对照组(I)。分别于注射后48小时取同侧SMLN,通过荧光显微镜观查和流式细胞仪(FCM)检测各组的SMLN中PEG-FP-N2的表达。结果A-D、E-H各实验组的SMLN中均可观察到绿色荧光。相同载体不同部位注射DNA后颞下方穹隆部注射组和下睑皮下注射组可以获得相对较高的转染效率。相同部位不同载体注射DNA后Sofast/DNA注射组的转染效率高于Lipo/DNA注射组。结论Sofast在SMLN的基因转染中优于Lipo。DNA/Sofast可以通过颞下方穹隆部注射和下睑皮下注射在SMLN获得相对较高的表达。     

ACE2基因多态性与原发性高血压的关系

目的 研究血管紧张素转化酶2（angiotensin converting enzyme 2,ACE2）基因多态性与广东地区原发性高血压的相关性.方法 高血压组选择门诊与住院的汉族无血缘关系的原发性高血压369例,男194例,女175例;对照组为同期体检的广东地区健康汉族居民199例,男101例,女98例.排除冠心病、高血压、糖尿病、脑血管病及肝功能不良、肾功能不良.按照性别分为两组,采用病例对照的原则,应用聚合酶链反应和限制性内切酶片段长度多态性（polymerase chain reaction and restriction fragment length polymorphism,PCR-RFLP）的方法检测ACE2基因G9570A多态性,并随机抽取20份标本进行基因测序以核实基因分型.在分析各亚组的年龄、体重指数、血压及生化指标的基础上综合分析ACE2基因多态性与原发性高血压的关系.结果 高血压组G等位基因频率：男75.3%,对照组男60.4%,差异有统计学意义（χ2=7.0086,P=0.0081）,高血压组,女57.4%,对照组45.4%,差异有统计学意义（χ2=6.9443,P=0.0084）;女高血压组GG基因型的频率明显高于对照组（χ2=12.9499,P=0.0015）;G等位基因人群发生高血压的风险高于A等位基因人群,男OR：1.9945,95% CI：1.1916～3.3385,P=0.0082;女OR：1.603,95% CI：1.1274～2.2792,P=0.0085.结论 ACE2-G9570A多态性与原发性高血压相关;携带G等位基因的男性和仅仅携带G基因的女性人群发生高血压的危险性相对较大,提示ACE2基因可作为原发性高血压的候选易感基因.     

1例中间型β-地中海贫血的临床诊断和基因检测

目的通过回顾性分析1例中间型β-地中海贫血（地贫）的诊断及基因检测流程,总结中间型地贫的诊断策略。方法分析1例β-地贫合并α-地贫基因型患儿的临床表现,通过地贫基因多重PCR检测及DNA序列测定明确诊断,结合相关文献复习,探讨影响β-地贫表现型的基因因素。结果该地贫患儿基因型为B珠蛋白基因41／42突变的杂合予合并仅仅仅anti3.7基因杂合子。结论中间型地贫的诊断,需要临床表现与基因病变相一致,多重PCR结合DNA序列测定等方法可确诊罕见型基因突变。     

ET-1、ET_A-R、c-fos原癌基因mRNA在子宫肌瘤中的表达

目的 :探讨ET 1及ETA R表达在子宫肌瘤发生中的病理生理作用及其与肌瘤中c fos原癌基因之间的关系。方法 :应用半定量RT PCR方法检测 30例子宫肌瘤组织及邻近正常子宫肌组织中ET 1、ETA R、c fosmRNA的表达强度 ,对照其差异。结果 :( 1)子宫肌瘤组织中ET 1mRNA的表达强度 ( 2 .717± 0 .5 2 0 )与正常子宫肌组织 ( 2 .4 83± 0 .62 3)差异有显著性 (P <0 .0 5 ) ;ETA RmRNA在子宫肌瘤组织中表达为 2 .2 17± 0 .4 68,明显高于正常子宫肌组织的 1.617± 0 .4 86(P <0 .0 0 1) ;c fosmRNA在子宫肌瘤组织中表达为 4 .90 0± 0 .4 0 3,也明显高于正常子宫肌组织的 4 .183± 0 .5 94 ,(P <0 .0 0 1) ;( 2 )相关分析表明 :肌瘤组织中ETA RmRNA与c fosmRNA之间呈正相关 ,而ET 1mRNA与ETA RmRNA、c fosmRNA之间无相关性。结论 :子宫肌瘤组织中ETA R的表达上调对子宫肌瘤细胞的分裂增殖起促进作用 ,ET 1/ETA R系统可能是子宫肌瘤发生发展的机理之一     

PAX5 alterations in an infant case of KMT2A‐rearranged leukemia with lineage switch

Lineage switch is a rare event at leukemic relapse. While mostly known to occur in KMT2A‐rearranged infant leukemia, the underlying mechanism is yet to be depicted. This case report describes a female infant who achieved remission of KMT2A‐MLLT3‐rearranged acute monocytic leukemia, but 6 months thereafter, relapsed as KMT2A‐MLLT3‐rearranged acute lymphocytic leukemia. Whole exome sequencing of the bone marrow obtained pre‐post lineage switch revealed two somatic mutations of PAX5 in the relapse sample. These two PAX5 alterations were suggested to be loss of function, thus to have played the driver role in the lineage switch from acute monocytic leukemia to acute lymphocytic leukemia.