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涎腺类乳腺分泌性癌:对25例标准RT-PCR法未能检出ETV6-NTRK3融合基因病例的进一步分子分析:4例存在ETV6-X融合基因 被引量:21
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作者 Skálová A Vanecek T +2 位作者 Simpson R H 胡舜 余英豪 《临床与实验病理学杂志》 CAS CSCD 北大核心 2016年第5期591-591,共1页
ETV6基因异常在肿瘤病理学已有完整描述,据文献报道不同的上皮性肿瘤和血液系统恶性肿瘤可检出多种ETV6融合基因伴侣。在涎腺肿瘤病理中,ETV6-NTRK3易位被认为是乳腺分泌性癌的特异性改变,而在其他类型的涎腺肿瘤中均木见报道。
关键词 乳腺分泌性癌 涎腺肿瘤 融合基因 RT-PCR法 分子分析 基因病例 血液系统恶性肿瘤 肿瘤病理学
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如何做好全基因组及候选基因病例/对照关联研究
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作者 惠汝太 孙凯 张伟丽 《中华心血管病杂志》 CAS CSCD 北大核心 2009年第4期378-380,共3页
基因型与表型关联研究(genotype—phenotype associationstudy)目前采取的策略主要为全基因组关联研究与候选基因关联研究。我们所说的表型是指某种疾病所表现出的症状或人体本身具有的一些特征或生理生化指标等,如身高、体重、血脂... 基因型与表型关联研究(genotype—phenotype associationstudy)目前采取的策略主要为全基因组关联研究与候选基因关联研究。我们所说的表型是指某种疾病所表现出的症状或人体本身具有的一些特征或生理生化指标等,如身高、体重、血脂、血糖、血压、心肌梗死等。根据“常见病多基因变异”的理论,上述研究策略可能会帮助我们找到多基因复杂疾病(如冠心病,糖尿病)的病因,阐明相同疾病为何临床表现不同,相同疾病为何对治疗的反应(疗效,副作用)各异的原因,为建立预测、预警、预防的个体化医学体系储备知识。 展开更多
关键词 基因 基因病例 候选 基因变异 生理生化指标 复杂疾病 基因关联 心肌梗死
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散发性大肠癌多基因突变与肠道内环境因素关系的研究 被引量:3
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作者 李欣 丁彦青 +1 位作者 张进华 姚成 《中国现代医学杂志》 CAS CSCD 2003年第10期1-4,共4页
目的 :探讨肠道内环境中因素与散发性大肠癌多基因突变关系。方法 :对 10 6例散发性大肠癌患者进行多基因突变和肠道内环境中有关指标 (以粪便为标本 )的测定 ,并进行流行病学的病例 -病例研究分析。结果 :10 6例散发性大肠癌患者中APC ... 目的 :探讨肠道内环境中因素与散发性大肠癌多基因突变关系。方法 :对 10 6例散发性大肠癌患者进行多基因突变和肠道内环境中有关指标 (以粪便为标本 )的测定 ,并进行流行病学的病例 -病例研究分析。结果 :10 6例散发性大肠癌患者中APC (MCR) ,K -ras(12 / 13 )及P5 3 (5 / 6,7,8)突变率分别为 3 1.19%(3 2 / 10 6) ,3 7.74% (4 0 / 10 6)及 3 9.62 % (4 2 / 10 6)。散发性大肠癌患者p5 3 2 49密码子突变占 p5 3总突变的42 .86% (18/ 42 ) ;肠道内粪胆汁酸 (OR =1.92 80 ,P =0 .0 0 5 2 ) ,Mg2 +(OR =0 .2 871,P =0 .0 12 1)和Ca2 +(OR=0 .0 65 9,P =0 .0 3 0 7)进入多因素logistic模型 ;吸烟指数和肠道内胆汁酸与 p5 3 2 49密码子突变相关。结论 :散发性大肠癌确实普遍存在有多种基因的突变 ,肠道内高胆汁酸可能是散发性大肠癌相关基因突变的重要危险因素 ,肠道内Ca2 +和Mg2 +可能为保护性因素 ;广东地区散发性大肠癌 p5 3基因突变有一定特点 。 展开更多
关键词 散发性大肠肿瘤 基因突变肠道内环境病例病例分析
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戊型肝炎病毒(HEV)在猪和牛群中的流行情况 被引量:1
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作者 王佑春 崔鹏 《胃肠病学》 2001年第C00期196-197,共2页
关键词 戊型肝炎病毒 猪群 牛群 感染率 基因病例
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Familial gastric cancers with Li-Fraumeni Syndrome: A case repast
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作者 Il-Jin Kim Hio Chung Kang +3 位作者 Yong Shin Byong Chul Yoo Han-Kwang Yang Jae-Gahb Park 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第26期4124-4126,共3页
TO THE EDITORAlthough the incidence of gastric cancer has declined somewhat in recent years, it remains one of the most common cancers worldwide[1], and is the most common cancer in East Asian countries such as Korea ... TO THE EDITORAlthough the incidence of gastric cancer has declined somewhat in recent years, it remains one of the most common cancers worldwide[1], and is the most common cancer in East Asian countries such as Korea and Japan[2].In terms of the genetics of gastric cancer, mutations in CDH1 (E-cadberin) have been associated with hereditary diffuse gastric cancer (HDGC). The first germline mutation in CDH1 was reported in a large Maori HDGC family[1],with subsequent corroborations in Western and Asian HDGC families[3-5], CDH1 mutations are believed to be associated with up to 50% of HDGC families[5], but have not been linked with sporadic or intestinal types of gastric cancer[5]. 展开更多
关键词 Familial gastric cancers Li-Fraumeni syndrome TP53 mutation
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An unusual enteropathy-associated T-cell lymphoma with MYC translocation arising in a Japanese patient:A case report 被引量:3
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作者 Kenji Okumura Masahiko Ikebe +4 位作者 Tatsuro Shimokama Morishige Takeshita Nao Kinjo Keishi Sugimachi Hidefumi Higashi 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第19期2434-2437,共4页
Enteropathy-associated T-cell lymphoma (EATL) is a rare peripheral T-cell lymphoma classified into 2 types, with or without celiac disease, based on histology. Type 2 EATL is less commonly associated with celiac dis... Enteropathy-associated T-cell lymphoma (EATL) is a rare peripheral T-cell lymphoma classified into 2 types, with or without celiac disease, based on histology. Type 2 EATL is less commonly associated with celiac disease, in which cells are characterized by being monomorphic and small- to medium-sized. Cells are characterized by CD8 and CD56 expression and c-MYC oncogene locus gain. We present an atypical case of type 2 EATL in the jejunum, with human T-lymphotropic virus-1 that was CD4- CDS+ CD56- CD30- CD25- TIA-I+ and granzyme B+ on immunohistological staining. It also displayed translocation of chromosome 8p24 (c-MYC), as de- termined by fluorescent/n situ hybridization. Mucosalspreading and intraepithelial invasion by lymphoma with villous atrophy were detected adjacent to the mucosal layer. The lymphoma may be derived from in- traepithelial CD8+ T cells, similar to celiac disease. 展开更多
关键词 Enteropathy-associated T-cell lymphoma Celiac disease Human T-lymphotropic virus-l Fluores-cent in situ hybridization Chromosome 8p24
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Molecular Detection, Culture and Isolation of Mycoplasma Pneumoniae From Reproductive Tract of STD Patients 被引量:1
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作者 王继东 赵季文 +5 位作者 李琴 徐萃瑜 谢平 华咏 汪圣强 肖琛月 《Chinese Journal of Sexually Transmitted Infections》 2002年第3期41-45,共5页
Objective: To confirm whether Mycoplasma pneumoniae (MP) are present in reproductive tract of STD patients inChina. Methods: Application of nested PCR (nPCR) and DNAsequencing to test samples of urethral/vaginal swabs... Objective: To confirm whether Mycoplasma pneumoniae (MP) are present in reproductive tract of STD patients inChina. Methods: Application of nested PCR (nPCR) and DNAsequencing to test samples of urethral/vaginal swabs withMP culture confirmation of several nPCR positive patients. Results: 74 of 786 STD patients were positive for MP bynPCR, with a rate of 9.4%. of the 484 male patients, 10.5%were positive, and among the 302 female patients, 7.6%were positive. There was no significant difference betweenthem (P<0.05). of 12 cases of MP positive samples by nPCR,4 cases were first generation culture-positive, and one ofthem passed to the next generation successfully. DNAsequencing was performed on the nPCR product of oneswab sample and one MP culture isolation. The determinedsequence was identical to the typical MP strain. Conclusion: In China, MP are present in reproductivetract of both male and female STD patients. 展开更多
关键词 MYCOPLASMA PNEUMONIAE PCR DNA sequence Determination
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Chronic Myelomonocytic Leukemia with t (3; 9) (p21; p13) as a Sole Abnormal Appearance: One Case Report
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作者 Ji-hong ZHANG Li-jun GUAN Yun-xiu WANG Ying-chun ZHENG Nan ZHANG Hai-xia TONG 《Clinical oncology and cancer researeh》 CAS CSCD 2010年第5期326-329,共4页
Chronic myelomonocytic leukemia, (CMML) is a clinically rare chronic myeloid leukemia, with an incidence rate of about 1-2/ 100,000/year, and the age of the predominant cases is over 60 years. The median age of onse... Chronic myelomonocytic leukemia, (CMML) is a clinically rare chronic myeloid leukemia, with an incidence rate of about 1-2/ 100,000/year, and the age of the predominant cases is over 60 years. The median age of onset is 65-70 years, and the ratio of the incidence between male and female is about 1.5 : 3.1. Specific etiological factors of the disease are not clear, but may be associated with the exposure to ionizing radiation, 展开更多
关键词 chronic myelomonocytic leukemia GENETICS pathogenesis.
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