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易位,遗传

易位,遗传的相关文献在1989年到2021年内共计86篇,主要集中在肿瘤学、内科学、外科学 等领域,其中期刊论文86篇、专利文献8863篇;相关期刊34种,包括国际生殖健康/计划生育杂志、中国医药生物技术、中华病理学杂志等; 易位,遗传的相关文献由455位作者贡献,包括周晓燕、封纪珍、杨会欣等。

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论文:86 占比:0.96%

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论文:8863 占比:99.04%

总计:8949篇

易位,遗传—发文趋势图

易位,遗传

-研究学者

  • 周晓燕
  • 封纪珍
  • 杨会欣
  • 魏淑彦
  • 李承文
  • 王建祥
  • 杨文涛
  • 潘金兰
  • 秘营昌
  • 薛永权
  • 期刊论文
  • 专利文献

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    • 韩小克; 杨惠祥; 李维钏; 杨志伟; 苑辉; 赵晓丹; 李慧; 戴芳芳; 郑波
    • 摘要: 目的 探讨外周血染色体结构异常的患者在减数分裂过程中产生染色体平衡型精子所占比例,为生育指导提供信息.方法 应用荧光原位杂交技术(FISH)对7例外周血染色体结构异常的患者精子进行分析,计算染色体平衡型精子的比例,并与对照组比较.结果 5例相互易位病例平衡型精子率分别为27.98%、28.94%、40.26%、25.71%和34.10%;1例复杂结构异常病例的平衡型精子率为10.95%;1例罗伯逊易位病例平衡型精子率为85.77%;对照组中染色体正常的不育男性平衡型精子率为99.86%,染色体正常的生育男性平衡型精子率为99.74%.结论 通过FISH技术检测染色体结构异常患者的精子染色体,可为生育指导提供信息.
    • 闫姣; 何翠颖; 王连静; 李炜静; 刘玮; 刘丽宏
    • 摘要: 边缘区淋巴瘤(MZL)是起源于边缘区的B细胞淋巴瘤,属于惰性淋巴瘤.MZL按照起源部位不同,分为3种亚型:黏膜相关淋巴组织(MALT)淋巴瘤、淋巴结MZL和脾MZL.起源于脾或者淋巴结外的淋巴瘤被称为结外MZL (EMZL),即MALT淋巴瘤,最常见的原发部位是胃肠道,患者预后相对较好.研究发现,EMZL患者具有部分共同且独特的遗传学改变,与其预后不良和向侵袭性淋巴瘤转化相关.这些遗传学改变调控核因子-赶;和NOTCH信号通路,包括染色体易位和体细胞突变.笔者通过对EMZL患者核因子-κB和NOTCH信号通路相关常见遗传学改变及其与患者预后的关系进行综述,为遗传学改变在临床实践中的广泛应用和寻找EMZL潜在治疗靶点提供新的思路.
    • 马秋红; 金科; 向永华; 李理
    • 摘要: 目的 分析儿童Xp11.2易位TFE3基因融合相关性肾癌CT表现,以提高该病的诊断水平.方法 回顾性分析湖南省儿童医院2011年1月至2019年6月经手术病理确诊的3例Xp11.2易位TFE3基因融合相关性肾癌患儿的影像学资料;检索万方、CNKI、迈特思创、Pubmed数据库截止2019年11月关于儿童Xp11.2易位TFE3基因融合相关性肾癌的相关文献并进行分析.分析Xp11.2易位TFE3基因融合相关性肾癌瘤体的部位、大小、形态、密度(钙化、出血、囊变坏死)、强化方式及转移情况等临床资料.结果 通过文献检索,联合本研究收集的3例Xp11.2易位TFE3基因融合相关性肾癌患儿进行综合分析,共纳入19例患儿,其中女童8例,男童11例;15例行CT平扫及增强扫描,仅1例行CT增强扫描;4例行MRI检查;右肾10例,左肾9例,均为单发;4例位于肾髓质内,14例位于肾皮髓质内,1例位于皮质.12例呈类圆形,7例呈不规则形.15例CT平扫发现8例呈稍高密度,7例呈等低密度;病例中有12例出现钙化;10例合并出血;16例出现囊变坏死.4例MRI检查示T1WI及T2WI均呈不均匀信号,1例中度不均匀持续强化,1例明显不均匀持续强化.CT动态增强扫描示病灶强化不均匀,6例轻度强化,4例中度强化,6例明显强化.各期强化程度均低于正常肾皮质,6例皮髓质期及延迟期呈渐进式持续强化;8例皮质期强化高于髓质期,延迟期强化稍低于髓质期,强化程度逐渐减低;2例各期强化无明显变化.10例出现腹膜后及腹主动脉旁淋巴结转移,其中1例肝脏受累,1例颈部淋巴结转移,4例腔静脉受累,1例2个月后子宫转移,1例死亡.结论 儿童Xp11.2易位TFE3基因融合相关性肾癌CT表现具有一定的特征性,特别是在儿童中发现肾脏肿瘤,应重点考虑Xp11.2易位TFE3基因融合相关性肾癌的可能.
    • 吴艳花; 包慧; 陈英剑
    • 摘要: 卵巢早衰(premature ovarian failure,POF)是导致女性不孕症的一个重要原因,其发病机制复杂多样,涉及遗传学、自身免疫、感染和医源性等因素,但是大部分POF发病机制尚不明确.染色体异常是导致POF的常见因素之一,约占10%~15%;其中尤以X染色体异常最为常见,包括X染色体数目异常、结构异常及X-常染色体易位.本文报道2例X-常染色体易位伴POF患者并进行文献回顾,对X-常染色体易位与POF相关性进行探讨.
    • 李叶; 赖悦云; 刘清; 王峥; 秦亚溱; 党辉; 师岩; 何琦; 江倩; 江浩
    • 摘要: 目的 探讨伴有t(3;21) (q26;q22)髓系肿瘤的临床特征.方法 回顾性分析2011年1月至2018年3月北京大学人民医院收治的19例伴有t(3;21) (q26;q22)血液恶性肿瘤患者的临床资料,并汇总文献报道的有详细生存资料的48例患者,采用Kaplan-Meier法进行生存分析.结果 19例患者中男15例,女4例,中位年龄36(22~68)岁,包括原发急性髓系白血病(AML)4例,骨髓增生异常综合征(MDS)4例,MDS转化的AML3例,慢性髓性白血病(CML)急变8例.19例患者染色体核型均可见t(3;21) (q26;q22),其中13例伴有附加异常.19例中9例进行AML 1-MDS1融合基因检测均阳性.9例患者有随访资料,6例接受化疗的患者中4例无效,2例获得完全缓解.随访期内除1例MDS患者因随访期短(6个月)仍存活,其余8例均死亡,中位生存时间为6(4.5~22)个月.汇总文献生存分析结果显示伴有t(3;21) (q26;q22)的髓系肿瘤患者整体预后差,中位生存时间为7个月,尤以AML/治疗相关的AML预后最差,移植和非移植组中位生存时间分别为20.9和4.7个月,差异有统计学意义(P<0.001).结论 t(3;21) (q26;q22)是罕见的重现性染色体异常,主要见于髓系血液肿瘤,临床预后差,建议尽早进行造血干细胞移植.%Objective To analyze the characteristics of myeloid neoplasms with t (3;21) (q26;q22).Methods Clinical data of patients with t (3;21) (q26;q22),diagnosed as hematologic malignancies in Peking University people's hospital from January 2011 to March 2018,were collected retrospectively.19 patients in our hospital and forty-eight patients bearing t(3;21) (q26;q22) with detailed survival data reported in literature were summarized.Kaplan-Meier method was used for survival analysis.Results Among 19 patients,including 15 males and 4 females with a median age of 36 years (22-68 years),4 cases was diagnosed as de novo acute myeloid leukemia (AML),4 as myelodysplastic syndromes (MDS),3 as MDS-AML and 8 as chronic myelogenous leukemia (CML) in myeloid blast transformation.All of the 19 patients were detected to have t(3;21) (q26;q22) by G-banding technique and 13 carried additional cytogenetic aberrations.9 of the 19 patients were detected for positive AML 1-MDS1 fusion genes.In the 9 patients with detailed follow-up data,6 patients received chemotherapy and only 2 achieved complete remission (CR) while 4 with no response.During the follow-up period,8 patients died and the median overall survival (OS) was 6 months (4.5 to 22 months).Survival analysis of the present 9 patients together with the literature data showed that the prognosis was poor and the median OS was 7 months.In particular,AML/ t-AML had the worst prognosis.Hematopoietic stem cell transplantation (HSCT) could significantly improve survival,the median OS in HSCT group and non-HSCT group were 20.9 and 4.7 months respectively (P<0.001).Conclusions t(3;21) (q26;q22) is a rare recurrent chromosomal abnormality which is detected mainly in myeloid neoplasm and confer to poor clinical prognosis.HSCT should be recommended to improve the outcomes.
    • 罗东兰; 严金海; 葛岩; 颜黎栩; 陈洁; 许洁; 骆新兰; 刘艳辉
    • 摘要: 目的 了解肺原发黏液表皮样癌(MEC)和形态相似的肺腺鳞癌中的MAML2基因易位情况及其对诊断、预后的意义.方法 利用组织芯片对2007年至2016年间广东省人民医院诊断的24例肺原发MEC和44例肺腺鳞癌进行MAML2基因易位的荧光原位杂交(FISH)检测,并进行包括甲状腺转录因子1(TTF1)、NapsinA、细胞角蛋白(CK)5/6、p63、p40、Ki-67等在内的免疫组织化学套餐检测.收集所有临床资料,随访所有的肺原发MEC患者.结果 肺原发MEC患者的年龄分布为6~73岁,中位年龄32岁.男女比例为1.4∶1.0.肺原发MEC中MAML2基因易位检出率为66.7%(16/24),而所有的肺腺鳞癌中均未检出MAML2基因易位.MAML2基因易位、年轻、组织学低级别与预后好相关.所有肺MEC组织切片均不表达TTF1和Napsin A,特征性的于中间细胞和表皮样细胞区域表达CK5/6、p63和p40.大多数肺原发MEC Ki-67阳性指数普遍低于10%.而肺腺鳞癌组中,大部分腺癌的成分表达TTF1和Napsin A,鳞癌成分表达CK5/6、p63和p40,表达模式与MEC不同.免疫组织化学套餐的应用鉴别出形态类似于MEC的高度侵袭性ALK阳性的腺癌.结论 约2/3的肺原发MEC可检测到MAML2基因易位.MAML2基因发生易位、组织学低级别等因素与预后好相关.套餐式免疫组织化学抗体联合应用,有助于鉴别肺原发MEC和腺鳞癌、形态类似MEC的腺癌.%Objective To investigate MAML2 gene-translocation in primary pulmonary mucoepidermoid carcinoma (PMEC) and pulmanary adenosquamous carcinoma,and the optimal diagnostic immunohistiochemical (IHC) panel in distinguishing PMEC from adenosqumous carcinoma.Methods Twenty-four cases of PMEC and 44 adenosqumous carcinoma diagnosed in the Guangdong General Hospital were tested for MAML2 translocation by fluorescent in-situ hybridization (FISH) using tissue array.An IHC panel including TTF1,Napsin A,CK5/6,p63,p40 and Ki-67 was performed on the cohort.The clinical data for all cases were collected and all PMEC patients had follow-up information.Results The patients' age ranged form 6 to 73 years,with a median age of 32 years.The male to female ratio was 1.4 ∶ 1.0.MAML2 translocation was found in 16/24 (66.7%) cases of PMEC whereas all 44 cases adenosqumous carcinoma were negative for translocation.All the cases of the PMEC were negative for TTF1 and Napsin A but positive for CK5/6,p63 and p40 in the intermediate cells and epidermal-like cells.In most PMEC cases,the Ki-67 expression index was lower than 10%.In contrast,most cases of adenosqumous carcinomas expressed TTF1 and Napsin A in the adenomatous component and CK5/6,p63 and p40 in the squamous component,which expression pattern was different from that of PMEC.Based on IHC staining,2 cases of highly invasive ALK-positive adenocarcinoma mimicing PMEC were also found in the study.Conclusions MAML2 gene translocation can be detected in about two-third of PMEC.Translocation of MAML2 gene and lower morphology grading are associated with good prognosis.The combined use of IHC antibodies panel is helpful to distinguish PMEC from the adenosqumous carcinoma and adenocarcinoma mimicing PMEC.
    • 胡桂明; 陈慧萍; 刘秋雨; 石祥呈; 吴会芳; 冯怡锟; 任景丽; 王朝夫
    • 摘要: 目的 探讨胃丛状纤维黏液瘤(plexiform fibromyxoma,PF)的临床病理学待征、诊断及鉴别诊断.方法 收集郑州大学第二附属医院及郑州大学第一附属医院2006年6月至2017年6月期间8例手术病例胃 PF 的临床病理资料及随访资料,光镜下观察 HE 切片、免疫组织化学染色(EnVision法)、荧光原位杂交(FISH)方法检测GLI1基因易位情况,Sanger测序法检测CKIT基因(第9、11、13和17号外显子)及PDGFRA基因(第12、14和18号外显子)的突变状态,并结合文献进行分析.结果 男性4例,女性4例;年龄26~72岁(平均年龄51岁);胃窦6例,胃底2例;肿瘤最大径1.2~7.0 cm,平均3.1 cm;肉眼观肿瘤边界较清,切面灰黄色或灰白色,质韧.低倍镜下肿瘤呈丛状或多结节状,浸润性生长;间质富含薄壁小血管及黏液样基质.高倍镜下肿瘤呈束状、席纹状及编织状排列,瘤细胞梭形或卵圆形,未见肿瘤性坏死,核分裂象(0~2)/50 HPF.免疫组织化学显示,波形蛋白(8/8)、平滑肌肌动蛋白(SMA,8/8)均阳性,CD10(4/8)、结蛋白(3/8)、H?caldesmon(5/8)、孕激素受体(PR,5/8)部分阳性,CD117、DOG1、CD34、间变性淋巴瘤激酶、雌激素受体及S?100蛋白均阴性.分子检测结果:3例检测到GLI1基因易位(3/8),4例行CKIT及PDGFRA基因突变检测均为野生型.7例获得随访资料,随访时间24~95个月(平均50个月),均无瘤生存.结论 胃PF是一种伴有肌样分化的间叶源性肿瘤,主要发生于胃窦部,目前的随访证据表明其生物学行为呈惰性临床经过,诊断时需与胃肠道间质瘤等多种间叶源性肿瘤鉴别.综合考虑肿瘤的丛状生长方式及免疫组织化学染色表达SMA、PR及CD10对胃PF的诊断与鉴别诊断有较大价值,GLI1基因易位检测亦可作为重要的辅助诊断手段.%Objective To analyse the clinicopathologic features of gastric plexiform fibromyxoma (PF)including diagnosis,differential diagnosis,immunohistochemistry and molecular pathology. Methods Eight cases of PF were collected from June 2006 to June 2017 at the Second Affiliated Hospital of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University. The clinicopathologic findings of eight cases of PF were retrospectively analyzed, and immunohistochemistry(EnVision method)and molecular detection of glioma?associated oncogene homologue 1(GLI1)gene translocation were performed. All cases were histologically reviewed with immunohistochemical staining for smooth muscle actin(SMA), CD10, CD117,DOG1,CD34,ER,PR,ALK and S?100. Fluorescence in situ hybridization(FISH)was used to detect the GLI1 gene translocation,and mutation of CKIT exons 9,11,13 and 17;and PDGFRA exons 12, 14 and 18 were identified by Sanger sequencing in four cases. Relevant literature was reviewed. Results The study included four men and four women, age ranged from 26 to 72 years(mean 51 years). Histologically,the tumors were rich in small thin?walled blood vessels and myxoid matrix,and exhibited multiple nodular growth pattern in the gastric wall. The tumor cells were bland, spindled or oval. Immunohistochemically,all cases strongly expressed vimentin and SMA,and some expressed CD10(4/8), desmin(3/8), H?caldesmon(5/8)and PR(5/8), but were negative for CD34, S?100, ER, ALK, CD117 and DOG1. The GLI1 gene translocation detection was performed in eight cases by FISH with three positive cases and five negative cases. Mutation analyses for exons 9, 11, 13, and 17 of CKIT genes and exons 12,14,and 18 of the PDGFRA genes were performed and the tumors all of four tested cases were wild?type. Seven patients were followed up(ranged from 24 to 95 months,mean 50 months)after diagnosis and none of the patients had recurrence or metastasis. Conclusions PF is a rare novel mesenchymal tumor of the stomach. Its distinct clinicopathologic features and immunohistochemical positivity for SMA, CD10 and PR can help differentiating this entity from other gastrointestinal mesenchymal tumors. FISH detection of GLI1 gene translocation offers an additional molecular diagnostic marker for the diagnosis.
    • 缪为民; 石琳; 胡林萍; 李娟; 刘芸; 李承文; 李思奇; 杜宏伟; 王征宇
    • 摘要: 目的 自主研制用于检测白血病染色体PML/RARα融合基因的双色荧光原位杂交(FISH)检测试剂盒.方法 根据染色体基因图谱,选定合适的细菌人工染色体(BAC)克隆重叠群分别作为PML基因探针和RARα基因探针.对入选的BAC克隆进行STS-PCR鉴定和荧光原位杂交鉴定.最后将完成鉴定的PML探针标记红色荧光素,RARα探针标记绿色荧光素,加上配套试剂组成FISH检测试剂盒.用双盲法检测白血病临床样本37例,对自制探针和同类进口探针在各项技术参数上进行对比研究.结果 自制试剂盒检测PML/RARα融合基因与进口探针相比,其阴、阳性率和同类进口产品完全符合;自制探针的荧光信号更强,信噪比更高.结论 自主研制的PML/RARα融合基因FISH检测试剂盒设计合理、质量可靠,可用于替代价格昂贵的进口产品.%Objective To develop a dual-colour FISH kit for detecting the leukemia PML/RARα fusion gene. Methods Based on the chromosome and gene map, corresponding BAC clone contigs were selected as PML and RARα FISH probes located on chromosome 15q22 and 17q21 respectively. The PML FISH and RARα probes were labeled with red and green fluorophores, respectively. The self-developed FISH kit and the commercial imported one were compared in terms of multiple technical parameters detected by double blind studies of 37 cases of clinical hematological samples. Results The detection results were consistent between the self-developed FISH kit and the commercial imported one with respect to detecting PML/RARα gene translocation. The self-developed probes were comparable to the commercial imported FISH probes in terms of multiple technical parameters, such as appearance, physical characteristics, fluorencence quench and stability at cold storage. Furthermore, the self-developed probes possessed stronger fluorescence signal intensities and better signal noise ratios than the imported probes did. Conclusion The FISH diagnostic kit developed in this work could serve as a domestic replacement for the expensive imported products.
    • 郑凤美; 主鸿鹄
    • 摘要: 核心结合因子-急性髓细胞白血病(CBF-AML)包括伴有t(8;21)(q22;q22) AML与伴有inv(16)(p13q22)/t(16;16)(p13;q22) AML 2种类型.CBF-AML患者对大剂量化疗敏感,预后良好.但是,近年来研究发现CBF-AML的预后具有异质性,对其进行危险度分层治疗为目前国际趋势.大剂量阿糖胞苷治疗仍为CBF-AML的首选治疗方案,异基因造血于细胞移植(allo-HSCT)为治疗高危、复发患者的重要手段,靶向药物的出现亦为CBF-AML的治疗提供了新希望.为了指导临床CBF-AML的治疗,笔者拟就CBF-AML的临床治疗研究进展进行介绍.%There are two typies of core-binding factor-acute myeloid leukemia (CBF-AML),including t(8;21)(q22;q22) AML and inv(16)(p13q22)/t(16;16)(p13;q22) AML.Patients with CBF-AML are sensitive to high-dose chemotherapy and have good prognosises.However,recent studies have showed that outcome of CBF-AML is heterogeneous.Risk stratification therapy has become the mainstream at present.High-dose cytarabine is still the first choice for CBF-AML treatment.Moreover,allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an important strategy for high-risk relapse patients.Emergence of targeted drugs also provides new hope for treatment of CBF-AML.This article focuses on the advances in clinical research to provide guide for treatment of CBF-AML.
    • 费冬梅; 欧阳鲁平; 黄红倩; 孙惟佳; 刘天盛; 苏景玉; 谢意
    • 摘要: Objective To investigate cytogenetic characteristics and pregnancy outcomes of detection results of fetal chromosomal balanced translocation in the second trimester.Methods A total of 89 pregnant women with fetal chromosomal balanced translocation were chosen as research subjects,including 1 case of twin pregnancy.They were diagnosed by karyotype analysis of amniocentesis from January 2012 to December 2015 in Maternal & Child Health Hospital of Guangxi Zhuang Autonomous Region.A total of 20 mL of amniotic fluid of each pregnant woman was extracted and cultured through amniocentesis to achieve fetal karyotype analysis.The karyotypes of the parents were generated from the peripheral blood cultures under the informed consent.The cytogenetic characteristics and pregnancy outcomes of 90 cases of fetal chromosomal balanced translocation were summarized.Informed consents were obtained from research participants.Results There were 53 cases of mutual translocation and 37 cases of robertsonian translocation in 90 cases of fetal chromosomal balanced translocation.①Among 53 cases of fetal chromosomal mutual translocation,8 cases were chimeric translocation,including 2 cases of pseudo-chimera which confirmed with normal karyotypes by reviewing the amniotic fluid and umbilical cord blood sample;a total of 13 of 53 cases were the first reported karyotype in the world.According to parents' peripheral blood karyotype of 42 fetuses,there were 40.5% (17/42) fetal chromosomal translocation inherited from mother,33.3% (14/42) inherited from father,and 26.2% (11/42) from de novo mutations.Among 53 fetuses of chromosomal mutual translocations,3 fetuses were induced,2 fetuses had unknown pregnancy outcomes due to loss of follow-up,and the remaining 48 fetuses were continue to be pregnant and live birth.②In 37 cases of robertson translocation,there were 31 cases (83.8%) of nonhomologous robertson translocation,in which 2 cases were induced and the rest were continue to be pregnant.There were 6 cases (16.2%) homologous robertson translocation in 37 cases of robertson translocation,and all of which were induced.Conclusions Prenatal chromosomal karyotype analysis should be routinely performed among general couples who are balanced translocation carriers or pregnant women with aberrant risk factors related to pregnancy.And recommendations should be made under the guidance of genetic counselor to control the births of fetuses with adverse genetic factors.%目的 探讨中孕期检测结果为胎儿染色体平衡易位的细胞遗传学特点及妊娠结局.方法 选择2012年1月至2015年12月,于广西壮族自治区妇幼保健院经羊水穿刺染色体核型分析,诊断为胎儿染色体平衡易位的89例中孕期孕妇为研究对象,其中1例为双胎妊娠.采用经腹羊膜腔穿刺术,取羊水20 mL进行细胞培养,分析胎儿染色体核型,并在知情同意情况下,抽取胎儿父母外周血进行染色体检查.总结这90例胎儿染色体平衡易位的细胞遗传学特点及妊娠结局.本研究受试者均签署知情同意书.结果 本研究90例胎儿染色体平衡易位中,相互易位为53例,罗伯逊易位为37例.①53例胎儿染色体相互易位中,嵌合体易位为8例,其中2例为假性嵌合体,经复查羊水和脐带血为核型正常;有13例为世界首次报道的染色体相互易位核型.对42例胎儿父母进行外周血染色体检查的结果显示,40.5%(17/42)胎儿染色体相互易位遗传自母亲,33.3%(14/42)遗传自父亲,26.2%(11/42)为新生突变.53例染色体相互易位胎儿的妊娠结局为:3例胎儿被引产,2例胎儿因失访而妊娠结局不详,其余48例胎儿均继续妊娠而活产.②37例胎儿染色体的罗伯逊易位中,非同源罗伯逊易位为31例(83.8%),其中2例选择引产终止妊娠,其余均继续妊娠;同源罗伯逊易位为6例(16.2%),全部选择引产终止妊娠.结论 对父母为染色体平衡易位携带者或有其他生育异常高危因素的孕妇,应在孕期进行胎儿染色体核型分析.在遗传咨询医师指导下,控制具有不良遗传因素的新生儿出生.
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