华北地区汉族群体15个短串联重复序列基因座遗传多态性分析

目的调查华北地区汉族人群15个短串联重复序列(shorttandemrepeat,STR)基因座遗传多态性分布和群体遗传学数据。方法应用毛细管电泳技术和五色荧光复合扩增的方法,检测597名汉族无关个体的15个STR基因座基因型。结果15个STR基因座的基因频率分布均符合Hardy-Weinberg平衡,所检测的15个STR遗传标记均具有高度多态性,杂合度均超过0.62,15个基因座的个体识别力在0.802~0.967之间,非父排除率在0.320~0·697之间,匹配概率在0.033~0.198之间。15个基因座的累积个体识别能力为0.999999以上,累积非父排除率为0.99999571,累积匹配概率为8.93×10-18。结论联合检测15个基因座可为亲缘鉴定和个体识别提供可靠的法医学证据,这15个STR基因座适用于中国人群的法医物证学检验。     

An azurocidin-like protein is induced in Trichoplusia ni larval gut cells after bacterial challenge

Trichoplusia ni immune genes up-regulated in response to bacterial infection have been isolated using differential display polymerase chain reaction. Here we report the cloning and characterisation of a gut-specific immune gene encoding an azurocidin-like protein. The deduced protein is 317 amino acid residues long with a hydrophobic C-terminus and a predicted 17-residue signal peptide. The mature T. ni protein shows 30% identity to human azurocidin, an antibacterial protein. Like azurocidin, the T. ni protein contains two amino acid substitutions in the active site triad normally present in serine proteases. The T. ni protein was synthesised with a six-histidine C-terminal extension using the baculovirus expression system. Sequencing of the recombinant azurocidin-like protein confirmed the predicted cleavage of the signal peptide. Northern blots show that T. ni azurocidin-like protein is expressed solely in the larval gut and that expression is up-regulated by injecting or feeding bacteria. Expression reaches its highest level at 10 h after bacteria injection.     

Tumor Vascularity Is Not a Prognostic Factor for Malignant Melanoma of the Skin

Tumor vascularity has been proposed as a prognostic indicator for a number of solid tumors. Although a correlation between microvessel number and metastatic behavior has also been suggested for cutaneous melanoma, the small number of cases studied to date allows one to draw only preliminary conclusions. In this study, we have assessed tumor vascularity in cutaneous melanoma by comparing 60 cases of metastasizing and non-metastasizing tumors matched for tumor thickness, age, sex, and anatomic site. Ulex europaeus agglutinin I appeared to be the most suitable vascular marker for this study. Our results indicate that there was no statistically significant difference between the two groups with regard to tumor vascularity. Even after identifying 15 cases of thin (<1.0 mm thick) melanoma, there was no significant difference in the number of microvessels between metastasizing and non-metastasizing tumors. Comparison of patterns of vascular microarchitecture also failed to discriminate between the two groups. Thus, our results indicate that tumor vascularity may not be an independent prognostic factor for cutaneous melanoma.     

三个常染色体隐性遗传早发型帕金森病家系的PARKIN基因研究

目的 探讨PARKIN基因与中国人常染色体隐性遗传早发型帕金森病（autosomal recessive early-onset Parkinson’s disease，AREP）家系的关系。方法 对3个AREP家系的6例患者和23位成员进行系统的临床检查并进行PARKIN基因PCR扩增，产物通过变性高压液相色谱（denaturing high—performance liquid chmnatogmphy，DHPLC）进行突变检测，阳性结果标本进行基因测序。结果 所有研究对象的PARKIN基因外显子均扩增成功。DHPLC检测和基因测序发现一个家系中存在PARKIN基因杂合Gly284Arg突变，另一个家系中存在PARKIN基因Ser167Asn多态性，且患者均有环境毒物接触史。结论 PARKIN基因杂合Gly284Arg突变在环境因素的协同作用下可能导致发病。PARKIN基因Ser167Asn多态性是帕金森病的易感因素，汞中毒与其共同作用可能导致发病。     

Detection of YMDD motif mutants by oligonucleotide chips in lamivudine-untreated patients with chronic hepatitis B virus infection

Lamivudine, a nucleoside analogue, has been used widely as an effective antiviral agent for the treatment of patients with chronic hepatitis B virus (HBV) infection. However, the YMDD motif mutation of HBV polymerase resistant to lamivudine occurs very frequently after long term therapy. We developed an oligonucleotide chip for the detection of YMDD motif mutants resistant to lamivudine and investigated the prevalence of the mutants in patients with chronic HBV infection who had not been treated by lamivudine before. Forty patients who had not been treated with lamivudine were included in this study. Serum samples were tested by the oligonucleotide chips designed for detection of wild-type YMDD motif, M552V and M552I. Samples were confirmed by restriction fragment length polymorphism (RFLP) and direct sequencing. M552I mutants were detected by the oligonucleotide chips in 7.5% (3/40) of chronic HBV infected patients (2 chronic hepatitis and 1 cirrhosis). The results were in accordance with those of RFLP. YMDD motif mutants occur as natural genome variabilities in patients with chronic HBV infection who had not been treated with lamivudine before. Oligonucleotide chip technology is a reliable and useful diagnostic tool for the detection of mutants resistant to antiviral therapy in chronic HBV infection.     

Signaling via LTbetaR on the lamina propria stromal cells of the gut is required for IgA production

Peyer's patches (PPs) and/or mesenteric lymph nodes (MLNs) are thought to be essential for immunoglobulin A (IgA) production. We found that the severe IgA deficiency in lymphotoxin-deficient (LT(-/-)) mice could be fully reversed by reconstitution with LT-expressing bone marrow, despite the absence of both LNs and PPs. The number of IgA precursors from LT(-/-) mice was not reduced, and they were able to migrate into the lamina propria (LP) of wild-type mice but not of LTbetaR(-/-) mice. Consistently, lymphoid tissue chemokines and adhesion molecules were reduced within the LP of LTalpha(-/-) and LTbetaR(-/-) mice. IgA deficiency in LTalpha(-/-) mice was reversed by the transplantation of a segment of RAG-1 (recombination-activating gene 1) deficient intestine, which confirmed the dispensability of the MLNs and PPs and the sufficiency of the LT-mediated gut microenvironment for IgA production.     

股骨颈骨折空心钉内固定手术参数的优化分析

闭合复位空心钉内固定手术是目前治疗股骨颈骨折的常用方法,采用有限元方法对空心钉内固定手术进行力学综合分析,根据股骨近端力学实验的结果,建立股骨近端有限元分析模型,对可能影响手术效果的患者体重、骨折线角度、空心钉布局与角度等几个参数进行分组分析,提取骨折面、钉子的应力应变分析结果,获得了216组不同手术参数组合的情况下,影响术后愈合与承载能力的骨折端面的错位位移、钉孔底部应变、钉子最大应力、股骨最大应变四个参数,并进行综合分析比较,找到一组符合生物力学规律的内固定治疗参数,并应用于医疗机器人手术参数规划及手术效果的评价系统。     

Bicaudal-C基因的分子特征和生物学功能

某些蛋白翻译水平的激活和抑制对胚胎发育过程中基因表达起到重要的时空调节作用.在果蝇中,Bicaudal-c(dBic-C)基因产物被认为是一种能与RNA结合的蛋白质分子,并对转录后水平具有重要的调节作用.dBic-C基因的突变会导致果蝇缺失头部结构和重复的尾部结构,故而命名为双尾-C基因.后来又在多个不同物种(如线虫、爪蟾、小鼠)中发现dBic-C的同源基因,并且这些同源基因的蛋白质产物高度保守.小鼠的Bicaudal-C基因(Biccl)定位于10号染色体的C1区域,其蛋白质N端含有KH结构域,用于介导蛋白质与RNA的相瓦作用;C端的SAM结构域则在蛋白质与蛋白质相互结合中发挥作用.目前已发现3种与Biccl基因相关的小鼠突变体模型jcpk、bpk和67Gso,这些小鼠突变体中Biccl基因在不同位点发生突变,产生异常的蛋白质产物,结果导致小鼠肾脏发生胞囊化,并且影响身体其他器官的正常形态及功能,病理表型特征与人类的多囊肾病(polycystic kidney disease,PKD)极为相似.本文通过总结和同顾Bicaudal-C基因研究的成果和进展,揭示该基因在生物体发育和器官形成中的作用,为深入研究这一基因的生物学功能奠定基础.     

Loss of claudin-1 expression induces epithelial-mesenchymal transition through nuclear factor-κB activation in colorectal cancer

Objective

The aim of this study was to elucidate the clinicopathological significance and prognostic role of loss of claudin-1 in colorectal cancer (CRC).

IMMUNOHISTOCHEMICAL DISTRIBUTION OF CANNABINOID CB 1 RECEPTOR IN THE RAT CENTRAL NERVOUS SYSTEM

IMMUNOHISTOCHEMICAL DISTRIBUTION OF CANNABINOID CB 1 RECEPTOR IN THE RAT CENTRAL NERVOUS SYSTEM@邹冈