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28例原发性胃癌的直接染色体分析和荧光原位杂交检测

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中华肿瘤杂志 1999年第5期21卷 345-349页

作者：夏建川肖晟张建华刘权章张贵寅李璞哈尔滨医科大学医学遗传研究室 150086 广州中山医科大学肿瘤防治中心肿瘤病理研究室 150060 美国哈佛大学医学院病理研究室江西赣南医学院生化研究室

目的　检测原发性胃癌的染色体畸变，分析这些变化在胃癌发生和发展中的作用。方法　用改良的实体瘤染色体直接制备法，对２８例原发性胃癌染色体进行Ｇ显带分析，在此基础上建立了一种Ｇ显带后脱色，再进行荧光原位杂交（ＦＩＳＨ） ... 详细信息

目的　检测原发性胃癌的染色体畸变，分析这些变化在胃癌发生和发展中的作用。方法　用改良的实体瘤染色体直接制备法，对２８例原发性胃癌染色体进行Ｇ显带分析，在此基础上建立了一种Ｇ显带后脱色，再进行荧光原位杂交（ＦＩＳＨ）的方法，从分子水平上证实染色体ＤＮＡ的变化。结果　病例１，２具有简单染色体数目改变，核型分别为４９，ＸＹ，＋２，＋８，＋９和４７，ＸＸ，＋８，＋２０。其余２６例原发性胃癌的染色体改变复杂，常见的染色体结构异常包括７ｑ（２１２６）、３ｐ（１４２６）、１ｐ（１１２６）和１７ｐ（１０２６）。结论　原发性胃癌的染色体改变可分为两种类型：简单型只涉及１～３条染色体数目改变，８号和９号染色体三体可能构成胃癌的一个细胞遗传学亚型；复杂型涉及较多染色体数目和结构畸变，７ｑ－为最一致的结构异常，可认为是原发性胃癌特征性染色体结构改变之一，７ｑ３２－

关键词：胃肿瘤遗传学染色体原位杂交

An international delphi consensus statement on metabolic dysfunction-associated fatty liver disease and risk of chronic kidney disease

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Hepatobiliary Surgery and Nutrition 2023年第3期12卷 386-403,I0014-I0016页

作者： Dan-Qin Sun Giovanni Targher Christopher D.Byrne David C.Wheeler Vincent Wai-Sun Wong Jian-Gao Fan Herbert Tilg Wei-Jie Yuan Christoph Wanner Xin Gao Michelle T.Long Mehmet Kanbay Mindie H.Nguyen Sankar D.Navaneethan Yusuf Yilmaz Yuli Huang Rino A.Gani Pierluigi Marzuillo Jérôme Boursier Huijie Zhang Chan-Young Jung Jin Chai Luca Valenti George Papatheodoridis Giovanni Musso Yu-Jun Wong Mohamed El-Kassas Nahum Méndez-Sánchez Silvia Sookoian Michael Pavlides Ajay Duseja Adriaan G.Holleboom Junping Shi Wah-Kheong Chan Yasser Fouad Junwei Yang Sombat Treeprasertsuk Helena Cortez-Pinto Masahide Hamaguchi Manuel Romero-Gomez Mamun al Mahtab Ponsiano Ocama Atsushi Nakajima Chunsun Dai Mohammed Eslam Lai Wei Jacob George Ming-Hua Zheng Department of Nephrology Jiangnan University Medical CenterWuxiChina Affiliated Wuxi Clinical College of Nantong University WuxiChina Section of Endocrinology Diabetes and MetabolismDepartment of MedicineAzienda Ospedaliera Universitaria Integrata VeronaVeronaItaly Southampton National Institute for Health and Care Research Biomedical Research Centre University Hospital Southamptonand Southampton General HospitalUniversity of SouthamptonSouthamptonUK Department of Renal Medicine University College LondonLondonUK Department of Medicine and Therapeutics Chinese University of Hong KongHong KongChina Center for Fatty Liver Department of GastroenterologyXin Hua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina Department of Internal Medicine I GastroenterologyEndocrinology&MetabolismMedical University InnsbruckInnsbruckAustria Department of Nephrology Shanghai General HospitalShanghai Jiao Tong University School of MedicineShanghaiChina Division of Nephrology Department of MedicineWürzburg University ClinicWürzburgGermany Department of Endocrinology and Metabolism Zhongshan HospitalFudan UniversityShanghaiChina Section of Gastroenterology Boston Medical CenterBoston University School of MedicineBostonMAUSA Division of Nephrology Department of Medicine(M.K.)Koc University School of MedicineIstanbulTurkey Division of Gastroenterology and Hepatology Department of MedicineStanford University Medical CenterPalo AltoCAUSA Department of Epidemiology and Population Health Stanford University Medical CenterPalo AltoCAUSA Section of Nephrology and Institute of Clinical and Translational Research Baylor College of Medicineand Michael E.DeBakey VA Medical CenterHoustonTXUSA Department of Gastroenterology School of MedicineMarmara UniversityIstanbulTurkey Department of Gastroenterology School of MedicineRecep Tayyip Erdoğan UniversityRizeTurkey Department of Cardiology Shunde HospitalSouthern Medical UniversityFoshanChina Division of Hepat

Background:With the rising global prevalence of fatty liver disease related to metabolic dysfunction,the association of this common liver condition with chronic kidney disease(CKD)has become increasingly *** 2020,the more inclusive term metabolic dysfunction-associated fatty liver disease(MAFLD)was proposed to replace the term non-alcoholic fatty liver disease(NAFLD).The observed association between MAFLD and CKD and our understanding that CKD can be a consequence of underlying metabolic dysfunction support the notion that individuals with MAFLD are at higher risk of having and developing CKD compared with those without ***,to date,there is no appropriate guidance on CKD in individuals with ***,there has been little attention paid to the link between MAFLD and CKD in the Nephrology *** and Results:Using a delphi-based approach,a multidisciplinary panel of 50 international experts from 26 countries reached a consensus on some of the open research questions regarding the link between MAFLD and ***:This delphi-based consensus statement provided guidance on the epidemiology,mechanisms,management and treatment of MAFLD and CKD,as well as the relationship between the severity of MAFLD and risk of CKD,which establish a framework for the early prevention and management of these two common and interconnected diseases.

关键词： Metabolic dysfunction-associated fatty liver disease(MAFLD) non-alcoholic fatty liver disease(NAFLD) chronic kidney disease(CKD) consensus

Hailey-Hailey病四个家系的ATP2C1基因突变分析

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实用皮肤病学杂志 2016年第5期9卷 296-299页

作者：梅爱华李宏文王婷梅刘冬先邓云华华中科技大学同济医学院附属同济医院皮肤科武汉430030 湖北医药学院附属东风医院皮肤科

目的检测Hailey-Hailey病(HHD)4个家系的致病基因ATP2C1,鉴定其突变位点和突变类型。方法采集4个HHD家系成员共9例患者和6名正常人,与100名无关健康对照者外周静脉血各2 ml,提取全基因组DNA。运用聚合酶链反应(PCR)扩增ATP2C1基因的全... 详细信息

目的检测Hailey-Hailey病(HHD)4个家系的致病基因ATP2C1,鉴定其突变位点和突变类型。方法采集4个HHD家系成员共9例患者和6名正常人,与100名无关健康对照者外周静脉血各2 ml,提取全基因组DNA。运用聚合酶链反应(PCR)扩增ATP2C1基因的全部28个外显子及其侧翼内含子序列,扩增产物纯化后进行DNA直接测序,BLAST比对分析其突变位点和突变方式。结果在9例HHD患者中共检出了3个ATP2C1基因致病突变:c.888_889ins T(p.296Tfs X2)、c.1330del C(p.443Qfs X33)和c.2416C>T(***806X)。在4个HHD家系的6名正常者和100名健康对照者中均未发现上述突变。结论在9个HHD家系患者中存在2个移码突变(c.888_889ins T和c.1330del C)及1个无义突变(c.2416C>T),其中2个移码突变为首次报道。这些突变的发现有助于HHD的诊断,并丰富了HHD相关ATP2C1突变数据库。

关键词： Hailey-Hailey病突变分析 ATP2C1基因 DNA测序

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X染色体部分缺失与性腺发育不全

上海医学 1984年第4期 214-217页

作者：于传鑫王静周焕庚康雪珍杨惠珠张爱丽王舸上海第一医学院妇产科研究所上海第一医学院妇产科研究所上海第一医学院医学遗传研究室上海市第一妇婴保健院新生儿研究室

内容提要本文报道3例X染色体部分缺失(1例X短臂部分缺失,2例X长臂部分缺失),均有性腺发育不全和Turner特征。作了细胞遗传学和临床内分泌学的研究,并结合文献讨论了其表现型与核型的关系。

关键词：性腺发育不全 X染色体染色体结构异常细胞遗传学 Turner 短臂内分泌学条索状性腺身材矮小表现型

解偶联蛋白2基因-866G/A,ala55Val及Ins/del多态性与宁夏回族人群脑缺血发病风险的相关性研究

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卒中与神经疾病 2018年第2期25卷 131-133,141页

作者：金毅然孙文青马斌武韩怀钦牛建国梁雪云何仲义宁夏医科大学总医院宁夏人类干细胞研究所银川750004 宁夏医科大学临床医学院宁夏医科大学总医院神经内科银川750004 宁夏医科大学基础医学院人体解剖与组织胚胎学系宁夏医科大学宁夏颅脑疾病重点实验室

目的探讨UCP2基因多态性在回族人群中的分布特点及UCP2SNP与脑缺血发病风险的相关性。方法收集宁夏地区回族正常人群及回族脑缺血患者外周血样本,提取外周血基因组DNA,采用聚合酶链反应-限制性片断长度多态性方法检测各样本UCP2基因-866... 详细信息

目的探讨UCP2基因多态性在回族人群中的分布特点及UCP2SNP与脑缺血发病风险的相关性。方法收集宁夏地区回族正常人群及回族脑缺血患者外周血样本,提取外周血基因组DNA,采用聚合酶链反应-限制性片断长度多态性方法检测各样本UCP2基因-866G/A,ala55Val及Ins/del多态性。结果UCP2基因-866G/A,ala55Val及Ins/del多态性在宁夏地区回族正常人群与脑缺血患者中分布频率无明显差异(P>0.05)。结论 UCP2多态性与宁夏地区回族脑缺血发病无相关性。

关键词：解偶联蛋白2 基因多态性回族人群脑缺血

Down-regulation of Fra a 1.02 in strawberry fruits causes transcriptomic and metabolic changes compatible with an altered defense response

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Horticulture Research 2021年第1期8卷 777-789页

作者： Begona Orozco-Navarrete Jina Song Ana Casanal Rosangela Sozzani Victor Flors Jose F.Sanchez-Sevilla Johanna Trinkl Thomas Hoffmann Catharina Merchante Wilfried Schwab Victoriano Valpuesta Laboratorio de Bioquimica y Biotecnologia Vegetal Instituto de Hortofruticultura Subtropical y Mediterranea(IHSM)Universidad de Malaga-Consejo Superior de Investigaciones CientificasDepartamento de Biologia Molecular y BioquimicaFacultad de CienciasUMAMalagaSpain Department of Plant and Microbial Biology North Carolina State UniversityRaleighNCUSA Metabolic Integration and Cell Signalling Group Plant Physiology SectionDepartment of Ciencias Agrarias y del Medio NaturalUniversitat Jaume ICastelloSpain Departamento de Genomica y Biotecnologia IFAPAMalagaSpain Biotechnology of Natural Products Technische Universität MünchenLiesel-Beckmann-Str.185354 FreisingGermany

The strawberry Fra a 1 proteins belong to the class 10 Pathogenesis-Related(PR-10)*** strawberry,a large number of members have been identified,but only a limited number is expressed in the *** this organ,Fra a 1.01 and Fra a 1.02 are the most abundant Fra proteins in the green and red fruits,respectively,however,their function remains *** know the function of Fra a 1.02 we have generated transgenic lines that silence this gene,and performed metabolomics,RNA-Seq,and hormonal *** studies associated Fra a 1.02 to strawberry fruit color,but the analysis of anthocyanins in the ripe fruits showed no diminution in their content in the silenced *** ontology(GO)analysis of the genes differentially expressed indicated that oxidation/reduction was the most represented biological *** state was not apparently altered since no changes were found in ascorbic acid and glutathione(GSH)reduced/oxidized ratio,but GSH content was reduced in the silenced *** addition,a number of glutathione-S-transferases(GST)were down-regulated as result of Fra a *** highly represented GO category was transport which included a number of ABC and MATE *** the regulatory genes differentially expressed WRKY33.1 and WRKY33.2 were down-regulated,which had previously been assigned a role in strawberry plant defense.A reduced expression of the VQ23 gene and a diminished content of the hormones JA,SA,and IAA were also *** data might indicate that Fra a 1.02 participates in the defense against pathogens in the ripe strawberry fruits.

关键词： straw content fruits

33例Turner综合征染色体核型与表型的分析

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上海第二医科大学学报 1987年第1期 31-35页

作者：王德芬杜敏联曾畿生傅曼芬乔敏敏钱浣青上海第二医科大学附属瑞金医院儿科上海第二医科大学附属瑞金医院儿科实验室

本文报道33例Turner综合征,有三种核型:45,X(15.2%);45,X/46,XX(63.6%);及X染色体结构畸变(21.2%)。后一组有7例:46,X,i(Xq)(4例);45,X/46,X.i(Xq)(1例);46,Xi,del(Xp)(1例);45X,/46,X,r(X)(1例)。对照分析了Turner综合征的核型及表型... 详细信息

关键词： (Turner综合征)核型 (Turner综合征)表型 X染色体畸变 X染色体长臂等臂 X染色体短臂缺失环形X染色体

急性胰腺炎急性期血清TNF-α、IL-6和IL-10变化的实验研究

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苏州大学学报（医学版） 2002年第3期22卷 265-267页

作者：田斌李军成刘根寿俞秋兴吴浩荣冯萍单卫明邢春根朱雪明苏州大学附属第二医院苏州215004

目的　研究急性胰腺炎急性期血清TNF -α、IL - 6和IL - 10的变化。方法　分别以 1%和 5 %牛磺胆酸钠 (0 .1ml/ 10 0 g)胰胆管注射建立急性水肿性胰腺炎 (AEP)和急性坏死性胰腺炎 (ANP)模型。雄性SD大鼠 48只随机平均分为Sham(假手术 )... 详细信息

目的　研究急性胰腺炎急性期血清TNF -α、IL - 6和IL - 10的变化。方法　分别以 1%和 5 %牛磺胆酸钠 (0 .1ml/ 10 0 g)胰胆管注射建立急性水肿性胰腺炎 (AEP)和急性坏死性胰腺炎 (ANP)模型。雄性SD大鼠 48只随机平均分为Sham(假手术 )组、AEP组、ANP组 3组。分别于造模后 3h、6h处死 8只动物 ,分别观察血清TNF-α、IL - 6和IL - 10的变化。结果　ANP组和AEP组血清TNF -α、IL - 6和IL - 10显著升高 (均P <0 .0 0 1)。造模后 6h的血清TNF -α、3h和 6h的血清IL - 6、IL - 10在ANP组均较AEP组为高 (分别P <0 .0 5、P <0 .0 0 1、P <0 .0 5 )。ANP组血清TNF -α、IL - 6水平在造模后 6h比 3h为高 (均P <0 .0 5 )。结论　在急性胰腺炎病程中细胞因子 (TNF -α、IL - 6、IL - 10 )起了重要的作用。IL - 6有助于早期判断胰腺坏死。

关键词：急性期急性胰腺炎肿瘤坏死因子-α 白细胞介素-6 白细胞介素-10 AP

Mapping QTLs for Yield Stability in Durum Wheat Grown under Different Water Regimes

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分子植物育种 2007年第2期5卷 223-223页

作者： M.C. Sanguineti M. Maccaferri E. Natoli J.L. Araus-Ortega M.B. Salem J.Bort E. de Ambrogio L. F.G. del Moral A. de Montis A. El-Ahmed I. Elouafi F. Maalouf V. Martos M.M. Nachit N. Nserallah H. Ouabbou Y. Rharrabti S. Rhouma C. Royo A. Slama D. Villegas R. Tuberosa Dept. of Agroenvironmental Sciences and Technology University of BolognaViale Fanin 44 40127 Bologna Italy Departament de Biologia Vegetal Universitat de Barcelona Spain Tunisian National Institute of Agronomic Research Tunis 1002 Tunisia Società Produttori Sementi Bolo-gna Divisione Ricerca Argelato 40050 Italy Dpto. Fisiologia Vegetal University of Granada 18200 Spain Plant Protection Department Aleppo University Aleppo Syria ICARDA Aleppo Syria Department of Plant Breeding Lebanese Agricultural Research Institute Bekaa Lebanon CRRA-INRA Settat 26000 Morocco Area de Conreus Extensius Centre Udl-IRTA Lleida 25131 Spain

Among the most important Mediterranean annual crops, durum wheat is widely grown in drought-prone areas. Therefore, improving water-use effi ciency (WUE) of durum wheat represents a major breeding goal. IDu-

关键词：小麦产量干旱灌溉水