弥漫性大B细胞淋巴瘤中CD40L的表达及意义

目的探讨弥漫性大B细胞淋巴瘤（DLBCL）组织中CD40L表达与DLBCL预后间的关系及意义。方法免疫组织化学法检测27例弥漫性大B细胞淋巴瘤、20例淋巴结反应性增生组织中CD40L的表达。结果（1）DLBCL中CD40L过度阳性率（25．93％）显著低于淋巴结反应性增生（63．64％），P〈0．05。（2）CD40L在Ⅲ、Ⅳ期DLBCL过度阳性率（14．29％）低于Ⅰ、Ⅱ期（38．46％），P〈0．05。CD40L过度阳性率在有结外浸润DLBCL（11．76％）低于无有结外浸润DLBCL（40％），P〈0．05。（3）DLBCL患者CD40L的过度阳性率与远处转移、临床分期均显著相关，P〈0．05。结论（1）CD40L过度阳性率与结外器官浸润及临床分期密切相关，其可能作为判断DLBCL侵袭性及预后的指标。（2）DLBCL中CD40L表达的减少可能是影响其发病的因素之一。     

The human CD40 gene lies within chromosome 20q deletions associated with myeloid malignancies

Deletions of chromosome 20q are associated with myeloid malignancies and have been previously shown to arise in a multipotent progenitor of both myeloid and B cells. However, B-cell differentiation from the abnormal progenitor was impaired. The CD40 antigen is a surface glycoprotein which is expressed in B cells and haemopoietic stem cells and is important for B-cell growth and development. Following the recent mapping of CD40 to chromosome 20q we sought to determine its position relative to 20q deletions. Analysis of lymphoblastoid cell lines carrying 20q deletions placed CD40 within a 19–21 cM interval which is almost coincidental with the common deleted region defined by previous analysis of patient samples. Our results raise the possibility that genetic alteration of this locus may contribute to the pathogenesis of myeloid disorders associated with 20q deletions.     

人细胞色素p450IA1基因cDNA的克隆和鉴定

在用３－甲基胆蒽诱导培养人羊膜ＦＬ细胞２４ｈ后，抽提细胞总ＲＮＡ并直接合成ｃＤＮＡ第一链。利用人工合成的一对寡核苷酸引物，采用ＰＣＲ技术特异性地扩增Ｃｙｔ ｐ５０ＩＡ１ ｃＤＮＡ。３０个循环后琼脂糖凝胶电泳显示１．５Ｋｂ大小片段，长度与预计相符。Ｓｏｕｔｈｅｒｎ杂交结果证实此片段确为Ｃｙｔ ｐ４５０ＩＡ１ ｃＤＮＡ。将此片段克隆至质粒ｐＧＥＭ－３Ｚ并进行部份序列分析。结果显示克隆片段包含Ｃｙｔ ｐ     

Ganglioglioma: A clinicopathological study of 10 cases

The clinical, radiological, and pathological features in 10 cases of ganglioglioma are described. The clinical data were derived from the patients' medical records, including a review of the age, sex, details of the presenting symptoms, radiological imagings, surgical intervention, and the clinical outcome. Age ranged from 1 to 66 years (mean 29); there were five males and five females. The tumors were located in the fronto-medial, bifrontal, temporal, temporo-basal, temporo-parieto-occipital, and parietal lobes; the 3rd ventricle; the cervicothoracic spinal cord; and the conus medullaris. The presenting symptoms were focal seizures, headaches, hemiparesis, paraparesis, and tetraparesis. In four patients, gross total resection was achieved and in the remaining six patients only subtotal resection was possible. Tumor recurrence occurred in three patients, 1 year, 14 months, and 2 years after the first operation. The histopathologic appearance of gangliogliomas showed a broad variation of the neuronal, glial, and stromal component. Studying proliferation characteristics, labeling for Ki-67 ranged from 0 to 13.7% (mean 4.1) and for PCNA from 0 to 32.1% (mean 20.4). Due to their favorable prognosis, early recognition and correct diagnosis are important in order to avoid progressive neurological deficits and unnecessary aggressive therapy. The application of immunohistochemistry for both neuronal (synaptophysin, NSE, NFP) and astrocytic (GFAP) cell markers, as well as proliferation markers, are recommended in the diagnostic setting for gangliogliomas. The treatment of choice is total surgical resection. The role of radio- and chemotherapy is still controversial.     

尖锐湿疣中乳头瘤病毒感染与P53和ki-67表达的关系

目的　探讨尖锐湿疣中乳头瘤病毒 (HPV)感染与 P5 3和 ki- 6 7的关系。　方法　采用免疫组织化学方法对 82例尖锐湿疣的 HPV感染、P5 3和 ki- 6 7的表达进行观察。　结果　 HPV阳性者 2 4例 (2 9.3% ) ,P5 3阳性表达 2 0例 (2 4 .4 % ) ,ki- 6 7阳性表达 2 1例 (2 5 .6 % )。2 4例 HPV阳性者中 ,P5 3阳性表达 10例 (41.7% ) ,ki- 6 7阳性表达 11例 (45 .8% ) ,经关联分析 ,皮损中 HPV感染与 P5 3(χ2 =4 .2 4 7,P<0 .0 5 )和 ki- 6 7(χ2 =5 .6 8,P<0 .0 5 )阳性表达均有显著关联 ;而 P5 3与 ki- 6 7两者均阳性者仅有 6例 (χ2 =0 .98,P>0 .0 5 ) ,无明显关联。　结论　在尖锐湿疣中 HPV感染伴随 P5 3和 ki- 6 7表达的增加     

毛细管电泳技术快速检测p53基因点突变

目的：探讨利用毛细管电泳技术快速检测p53基因点突变的临床应用价值。方法：采用毛细管电泳作SSCP分析，检测20例结肠癌肿瘤标本p53基因第7外显子PCR扩增产物，并与传统的聚丙烯酰胺凝胶电泳结果进行比较，最后用DNA序列测定判断其准确性。结果：20例结肠癌标本中，毛细管电泳技术检测出5例标本(Ca4，Ca6，Ca7，Ca8，Ca14)有突变，而凝胶电泳结合银染技术仅检出4例标本(Ca4，Ca6，Ca7，Cal4)有突变，测序证实经毛细管电泳所检出的5例标本均存在点突变。结论：对于PCR产物的单链构象多态性分析，毛细管电泳技术是一种更加快速、简便、敏感的方法，可应用于临床筛查基因点突变。     

人精液中ABH血型物质分泌强度的研究

本文采用中和试验、沉降反应和解离试验对１３５例已知血型人精液中ＡＢＨ血型物质的分泌强度进行了检验，并将其分为强、中、弱三型。这对区别个人血型物质含量及性犯罪的法医学鉴定均有重要意义。并证明了ＡＢ型人精液中Ａ、Ｂ血型物质含量不均等现象，并且绝大多数人Ｂ型物质高于Ａ型物质。     

Suggestive linkage to chromosome 19 in a large Cuban family with late‐onset Parkinson's disease

The identification of disease genes using family‐based approaches has provided important insights into the pathogenesis of Parkinson's disease (PD) demonstrating the importance of genetic studies on monogenic forms of the disease. We studied a large Cuban family with typical, late‐onset PD and probable autosomal dominant inheritance. Mean age at onset was 61.2 years (±12.53, 45–76). Other phenotypes such as essential tremor and atypical parkinsonism were observed in this family. We carried out a genome‐wide scan and linkage analyses. The genetic data were analyzed using a conservative model in which only patients with clinically definite or likely PD were considered affected, other phenotypes were regarded as “unknown.” Multipoint analyses yielded a maximum LOD of 2.26 between markers D19S221 and D19S840. Haplotype analysis showed a region on chromosome 19 shared by six of seven PD patients. The essential tremor phenotype and the atypical parkinsonism do not segregate with this haplotype, suggesting a different etiology. Our findings suggest the presence of a novel locus for PD on chromosome 19p13.3–q12. We propose that an oligogenic model with moderate contribution of two or three genes rather than a “pure” monogenic model might explain better the wide range in age at onset, the reduced penetrance and the phenotypical variability observed in PD families. © 2003 Movement Disorder Society     

48例非霍奇金淋巴瘤中的p53基因突变

采用ＡＢＣ和ＰＣＲ－ＳＳＣＰ法在４８例ＮＨＬ中研究ｐ５３基因外显子５～８中发生突变的类型、频率与突变型ｐ５３蛋白的表达以及它们与病理分型、恶性程度的相关性。结果：突变型ｐ５３蛋白在ＮＨＬ中的阳性率为４１．７％，其中在弥漫型大细胞性淋巴瘤（ＤＬＣＬ）为７５％，在非ＤＬＣＬ为３５％，两者差异显著（Ｐ＜０．０５）；在ｐ５３蛋白表达阳性的ＮＨＬ中ＰＣＲＳＳＣＰ阳性主要见于ＤＬＣＬ，检出率为１５％，在非ＤＬＣＬ中ＰＣＲ－ＳＳＣＰ均为阴性（Ｐ＜０．０５）。表明国人ＮＨＬ，尤其在恶性程度很高的ＤＬＣＬ中存在ｐ５３基因突变，各型ＮＨＬ都有不同程度的突变型ｐ５３蛋白表达     

癌基因c-fos、c-jun蛋白在鳞状细胞癌皮损中的表达及意义

目的　探讨癌基因c fos、c jun的表达与皮肤鳞癌发生和发展的关系。　方法　采用免疫组化法对 6 0例皮肤鳞癌的c fos、c jun的表达情况进行检测 ,并与正常皮肤组织进行对照。　结果　c fos、c jun在正常皮肤组织不表达 ,在皮肤鳞癌中的表达阳性率分别为 6 1.7%和 4 8.3% ,其表达水平与癌组织的分化程度有关 (P <0 .0 5 ) ,肿瘤的分化程度越高其表达水平越高。　结论　c fos、c jun的表达水平可作为判定皮肤鳞癌分化的指标。