胃癌中hMSH2、p53和PCNA表达的相关性及意义

目的:探讨胃癌中hMSH2、p53和PCNA表达的相关性及意义.方法:采用免疫组织化学SP法,检测胃癌、癌旁和胃炎粘膜中hMSH2、p53和PCNA表达情况.结果:1)3种基因产物在胃癌中的阳性率均显著高于非癌组织,其中,p53和PCNA在低分化癌中的阳性率显著高于高分化癌,有淋巴结转移者显著高于无转移者(P＜0.05).2)胃癌中hMSH2/PCNA及p53/PCNA表达均呈正相关(P＜0.05).结论:hMSH2、p53和.PCNA的异常表达及hMSH2与PCNA之间的相互调节可能与胃癌的发生发展密切相关.     

p27kip1在宫颈癌组织中的表达及意义

目的 研究p27^kip1在宫颈癌组织中的表达并探讨其在宫颈癌发生发展过程中的变化及意义。方法 采用免疫组化SP法对57例浸润性宫颈癌(IC)、11例宫颈原位癌(CLS)、18例宫颈上皮重度不典型增生(SD)和15例正常宫颈组织(NE)进行了细胞周期蛋白依赖性激酶抑制剂(CDKI）p27^kip1的检测。结果 15例正常宫颈上皮中p27^kip1蛋白全部高表达，而在SD和CLS以及浸润性宫颈癌中，其蛋白表达水平随病变的发展呈现了有意义的下降。在宫颈癌进展期，p27^kip1表达与宫颈癌的临床分期、组织分级、淋巴结转移呈显著负相关，单因素生存分析显示p27^kip1蛋白高表达组生存率明显优于低表达组。结论 p27^kip1蛋白表达的下降参与了宫颈癌的发生发展。其蛋白水平检测是宫颈癌早期诊断及判定预后的一个有价值的指标。     

p21-ras、p53和VEGF在甲状腺乳头状癌中的表达及意义

目的　研究原癌基因Ras、抑癌基因p5 3及血管内皮生长因子 (VEGF)在甲状腺乳头状癌中的表达及相关性。方法　应用免疫组织化学S P法对 4 0例甲状腺乳头状癌中p2 1 ras、p5 3及VEGF的表达进行研究。结果　甲状腺乳头状癌中存在p2 1 ras、p5 3及VEGF的过度表达 ;VEGF的表达与p2 1 ras、p5 3的表达显著相关 (P <0 .0 5 ) ;VEGF的表达与甲状腺乳头状癌淋巴结转移显著相关 (P <0 .0 5 )。结论　p2 1 ras、p5 3、VEGF在甲状腺乳头状癌的发生发展过程中起重要作用 ;VEGF的表达与p2 1 ras、p5 3表达显著相关 ,可能受其调控。     

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