颌骨造釉细胞瘤64例临床分析

本文对我院１９５４－１９９０年收治的６４例颌骨造釉细胞瘤进行了回顾性分析，未发现１例恶性。特别是我们在长期工作实践中发现肿瘤与周围正常骨质有较明显的分界。遂于１９６３年开始试行颌骨内种瘤出术，至１９９０年６月已经成功地施了１２例，１例因手术时肿物巨大而且合并感染于术后１０年复发外，其余１１例术后随访年６个月－２７年，中位１２年１０个月均无复发。发种手术损伤小，方法简单，无损美容，预后性，特别是对颌     

Selection of Single Nucleotide Polymorphisms for Association Studies in Candidate Genes

Comparison of polymorphic sites such as single nucleotide polymorphisms (SNPs) within a gene between cases and controls may be useful for establishing a role of this gene in disease susceptibility. The approach includes two steps: the first step is the discovery of the different SNPs within the candidate gene and the second step is the association testing per se that can be done on the entire set of sites discovered or on a subset of these sites only. Selecting a subset of sites may increase the power to detect the association with the candidate gene since a smaller number of tests would then be performed. We proposed a strategy to select sites within a candidate gene and applied it on the Genetic Analysis Workshop 12 candidate gene data. Using these selected sites, we detected an association with candidate genes 1 and 6. © 2001 Wiley‐Liss, Inc.     

RENIN GENE POLYMORPHISM ASSOCIATED WITH ALDOSTERONE RESPONSIVENESS TO THE RENINANGIOTENSIN SYSTEM IN PATIENTS WITH ALDOSTERONE-PRODUCING ADENOMAS

1. Aldosterone levels in patients with unilateral aldosterone-producing adenomas may be responsive or unresponsive to the renin-angiotensin system, with the former often previously misdiagnosed as bilateral adrenal hyperplasia. 2. In tumours from patients in the responsive subgroup, renin mRNA is expressed in greater amounts than in tumours from patients in the unresponsive subgroup, or in normal adrenals. 3. We compared the frequency of four renin gene polymorphisms in peripheral blood DNA from the two subgroups and found significant associations between BglI, TaqI and HinfI restriction fragment length polymorphisms (RFLP) and aldosterone responsiveness. 4. Allelic variation in the constitutive renin gene was associated with a specific cause of hypertension.     

肿瘤转移抑制基因KAI1在喉鳞状细胞癌中表达的研究

目的　探讨肿瘤转移抑制基因KAI1在喉鳞状细胞癌 (简称鳞癌 )中的表达及其与之发生、发展的关系。方法　采用原位杂交方法检测 84例原发性喉鳞癌 (primarylaryngealsquamouscellcarcinoma ,PLSCC)、2 7例喉癌前病变不典型增生 (laryngealprecancerouslesion ,LPL)、10例声带息肉(vocalcordpolyp ,VCP)和 10例正常喉黏膜 (normallaryngealtissues ,NLT)石蜡标本组织细胞中KAI1mRNA的表达。结果　NLT、VCP、LPL和PLSCC 4种组织中KAI1阳性表达的积分吸光度值 ( x±s)分别为 (136 2 0 6 8± 36 6 75 5 )、(1336 74 5± 4 2 85 8 5 )、(90 36 8 8± 2 5 70 1 9)和 (6 7880 6± 2 8189 5 ) ,其中NLT组和VCP组之间差异无显著性 (t=0 14 2 ,P >0 0 5 ) ,NLT组和LPL组之间差异有显著性 (t =4 2 81,P <0 0 1) ;PLSCC组中KAI1表达普遍下调 ,且病理分化G1 2组阳性表达水平高于G3组 ;T1 2病变组高于T3 4组 ;颈淋巴结NO组高于N1及N1以上组 ;临床Ⅰ Ⅱ期组高于临床Ⅲ Ⅳ期组 (P值均 <0 0 1)。KAI1表达与患者性别无关 (P >0 0 5 )。结论　KAI1低表达在喉鳞癌的发生、发展中可能起着重要作用 ,可望作为喉鳞癌早期诊断、评估肿瘤细胞侵袭转移潜能及患者病程发展阶段的指标之一。     

垂体腺瘤的分子病因学研究进展

垂体腺瘤是发生于垂体前叶的良性肿瘤，约占中枢神经系统肿瘤的10％-20％，而无功能微腺瘤占到成人尸检的23％左右。生理上根据免疫组化将垂体腺瘤按功能分为有激素分泌活性腺瘤（functioning pituitary adenoma，FPA）和非激素分泌活性腺瘤（non—functioning pituitary adenoma，NFPA）两大类。[第一段]     

The normally expressed κ immunoglobulin light chain gene repertoire and somatic mutations studied by single-sided specific polymerase chain reaction (PCR); frequent occurrence of features often assigned to autoimmunity

The expressed human κ light chain gene repertoire utilized by healthy individuals was studied by two different single-sided specific PCR techniques to avoid bias for certain V genes. A total of 103 rearranged κ sequences from peripheral blood mononuclear cells from healthy individuals were cloned from cDNA and assigned to the Vκ and Jκ germ-line genes with the closest overall homology. The use of cDNA rather than genomic DNA focused the analysis on activated B cells rich in mRNA. Accordingly, the sequences represented the applied repertoire and almost all were somatically mutated. V genes from the Jκ-proximal duplication unit of the κ locus were almost exclusively used. A total of 65% of the sequences could be assigned to four or five genes: A27 (humkv325), L6 (Vg), L2 (humkv328), and A3 and/or A19. N additions and P nucleotides were quite common and found in 32% and 21% of the sequences, respectively. Extended CDR3s more than nine residues in length were found in 18% of the sequences, and in 71% of cases this was due to insertion of an extra proline residue. This proline was usually explained from the germ-line sequences involved. These results are in good agreement with those of previous repertoire studies using potentially V-gene-biased techniques. Thus, it is clear that restricted V-gene usage, common N and P additions, and extended CDR3 regions are normal features and not, as has been claimed, characteristics of pathological autoantibodies.     

The effect of sodium lauryl sulphate on the expression of cytokeratin mRNA in hamster cheek pouch epithelium

The effect of sodium lauryl sulphate (SLS) on cytokeratin (CK) gene expression in hamster cheek pouch epithelium was studied with a hybridohistochemical technique. Using specific human anti-sense RNA probes, the plausible hamster mRNA counterparts for these human CK mRNAs were localized by detection of heterologous hybrids. In comparison with normal epithelium, the expression and distribution pattern of CK mRNAs in the hamster cheek pouch were obviously changed after application of SLS. There was a decreased expression of CK mRNAs in the hyperplastic basal layer, and increased expression in the hypertrophic granular layer. Strikingly, hybridization with the human CK 18 cRNA probe revealed an additionally expressed CK mRNA in the SLS-treated epithelium that was not found in the untreated epithelium. The present study indicates that cRNA probes for human CK mRNAs can be used successfully, not only to distinguish between different hamster CK mRNAs but also to investigate changes in CK gene expression upon the induction of non-neoplastic and neoplastic alterations in the hamster cheek pouch model. This may help elucidate the molecular changes involved in epithelial pathologies.     

An Evolutionarily Conserved Region in the Second lntron of the Human Nestin Gene Directs Gene Exmession to CNS Progenitor Cells and to Early Neural Ciest Cells

Central nervous system (CNS) progenitor cells transiently proliferate in the embryonic neural tube and give rise to neurons and glial cells. A characteristic feature of the CNS progenitor cells is expression of the intermediate filament nestin and it was previously shown that the rat nestin second intron functions as an enhancer, directing gene expression to CNS progenitor cells. In this report we characterize the nestin enhancer in further detail. Cloning and sequence analysis of the rat and human nestin second introns revealed local domains of high sequence similarity in the 3' portion of the introns. Transgenic mice were generated with the most conserved 714 bp in the 3' portion of the intron, or with the complete, 1852 bp, human second intron, coupled to the reporter gene lacZ. The two constructs gave a very similar nestin-like expression pattern, indicating that the important control elements reside in the 714 bp element. Expression was observed starting in embryonic day (E)7.5 neural plate, and at E10.5 CNS progenitor cells throughout the neural tube expressed lacZ. At E12.5, lacZ expression was more restricted and confined to proliferating regions in the neural tube. An interesting difference, compared to the rat nestin second intron, was that the human intron at E10.5 mediated lacZ expression also in early migrating neural crest cells, which is a site of endogenous nestin expression. In conclusion, these data show that a relatively short, evolutionarily conserved region is sufficient to control gene expression in CNS progenitor cells, but that the same region differs between rodents and primates in its capacity to control expression in neural crest cells.     

泪腺肿瘤中P53蛋白表达的意义

目的了解P53基因在泪腺肿瘤的表达及其临床病理学意义。方法应用免疫组织化学ABC法检测57例泪腺上皮性肿瘤患者和10例正常人泪腺组织中P53蛋白的表达情况，并与病理分级、复发相联系。结果10例正常人泪腺组织中P53表达全部为阴性；恶性肿瘤患者的表达率为48．6％，良性肿瘤中P53达率为18％，二者相比有显著性差异（P＜0．025）；复发患者阳性率为76．9％，明显高于未复发患为31．8％（P＝0．015）。结论P53基因参与了泪腺肿瘤的发生发展并与肿瘤的分化和复发有关。