47例原发性乳腺癌多药耐药MDR1基因表达及其临床意义

[目的]探讨原发性乳腺癌多药耐药MDR1基因的表达及其临床意义.[方法]采用荧光定量RT-PCR法检测47例乳腺癌组织及15例正常对照(包括5例乳腺纤维腺瘤、10例癌旁组织)MDR1基因的表达.[结果]乳腺癌MDR1基因表达阳性率为46.8%,与病人年龄、肿瘤大小、淋巴结转移与否、ER、PR状况、绝经与否无关.对照组中无MDR1基因表达.[结论]乳腺癌MDR1基因的表达可作为乳腺癌化疗耐药的评价指标,能否作为判断预后的独立指标尚需进一步研究.     

Expression of the β‐adhesin part of HRgpA in Sprague Dawley rats induces a specific antibody response

The β‐adhesin part of the Porphyromonas gingivalis W50 (ATCC 53978) protease HRgpA was cloned in an eukaryotic expression vector and expressed in COS‐7 cells. The monoclonal antibody MAb (61BG1.3), specific for the hemagglutinating domain of β‐adhesin, recognized the expressed β‐adhesin in the transfected cells both by immunoblot and immunofluorescence. Sprague Dawley rats were immunized intramuscularly with β‐adhesin encoding expression plasmid and expression plasmid without β‐adhesin insert. Skeletal muscle tissue at the site of immunization in the β‐adhesin immunized animals was shown to express this protein. The immunization induced a β‐adhesin‐specific antibody response. Sera from the immunized animals were tested for hemagglutination inhibiting activity. Due to high natural inhibiting activity in all rat sera tested, no increased hemagglutination inhibition was detected in sera from the β‐adhesin immunized animals.     

Molecular basis of severe myoclonic epilepsy in infancy

Severe myoclonic epilepsy (SMEI) or Dravet syndrome is caused by mutations of the SCN1A gene that encodes voltage-gated sodium channel alpha-1 subunit. Recently, we generated and characterized a knock-in (KI) mice with an SCN1A nonsense mutation that appeared in three independent SMEI patients. The SCN1A-KI mice well reproduced the SMEI disease phenotypes. Both homozygous and heterozygous knock-in mice developed epileptic seizures within the first postnatal month. In heterozygous knock-in mice, trains of evoked action potentials in inhibitory neurons exhibited pronounced spike amplitude decrement late in the burst but not in pyramidal neurons. We further showed that in wild-type mice the Nav1.1 protein is expressed dominantly in axons and moderately in somata of parbalbumin (PV) – positive inhibitory interneurons. Our immunohistochemical observations of the Nav1.1 are clearly distinct to the previous studies, and our findings has corrected the view of the Nav1.1 protein distribution. The data indicate that Nav1.1 plays critical roles in the spike output from PV interneurons and further, that the specifically altered function of these inhibitory circuits may contribute to epileptic seizures in the mice. These information should contribute to the understanding of molecular pathomechanism of SMEI and to develop its effective therapies.     

The role of Self-Defined Race/Ethnicity in Population Structure Control

Population-based association studies are powerful tools for the genetic mapping of complex diseases. However, this method is sensitive to potential confounding by population structure. While statistical methods that use genetic markers to detect and control for population structure have been the focus of current literature, the utility of self-defined race/ethnicity in controlling for population structure has been controversial. In this study of 1334 individuals, who self-identified as either African American, European American or Hispanic, we demonstrated that when the true underlying genetic structure and the self-defined racial/ethnic groups were roughly in agreement with each other, the self-defined race/ethnicity information was useful in the control of population structure.     

高度近视的病因学研究进展

高度近视发生的内因、外因，包括遗传倾向，相关基因定位，巩膜胶原白体免疫学说，视网膜生物活性物质失调学说，环境因素等，本研究就这些因素对高度近视发病的影响做一综述。现统一的认识有：①高度近视具有明显的遗传倾向。②迄今为止，已找到4个高度近视相关基因，它们的遗传方式均为常染色体显性遗传。③高度近视的巩膜组织病理改变和胶原代谢障碍引发了人们对高度近视免疫相关基因的深入研究。已发现HLAⅡ类基因与部分高度近视具有相关性。④视网膜中存在的生物活性物质直接或间接参与了形觉剥夺性近视的形成。⑤环境因素并非高度近视发病的决定因素，它仅起一定程度的促进作用。将今后的工作重点放在高度近视基因定位的研究，基因表达的调控及巩膜胶原代谢、网膜生物活性物质之间的关系研究上，无疑会进一步揭示高度近视的病因，为防治高度近视开辟新途径。     

Recombinant glycoprotein based vaccine for Chandipura virus infection

Chandipura virus (CHPV) has emerged as an important pediatric encephalitis-causing pathogen with very high mortality in India. No specific vaccine or treatment is available till date. We attempted to prepare a candidate vaccine employing recombinant CHPV Glycoprotein (rGp). The Glycoprotein gene (G-gene) of CHPV was expressed using Baculovirus expression system. The rGp was purified by HPLC and used for mice immunization, 3 doses, and 4 weeks apart. One microgram rGp was found to be optimum. Sero-conversion was observed as early as 2nd week by detecting anti-CHPV IgG antibodies. Antibody titres were immunogen-concentration dependent. Intracerebral challenge of the immunized mice with 100 LD₅₀ of the homologous strain demonstrated 90% protection. In in vitro neutralization, antibodies from the immunized mice were able to neutralize heterologous viruses. There was 60% T cell proliferation observed against rGp in immunized mice. The study shows that rGp induces both arms of immune response and represents an ideal vaccine candidate for further evaluations.     

瘢痕疙瘩形成机制的研究进展

瘢痕疙瘩是烧伤外科研究的重要课题，其形成机制尚未完全明确，本文就其在遗传机制、免疫作用、细胞增殖与胶原代谢、细胞因子等方面的研究进展进行综述。