学科分类
/ 25
500 个结果
  • 简介:摘要目的分析一例小眼畸形家系的遗传学病因,为产前诊断提供依据。方法收集患儿的临床资料,采集患儿及其父母、祖父母的外周血样,提取基因组DNA,通过全外显子测序检测基因变异,并用Sanger法进行验证。通过序列分析和PubMed检索预测候选变异的致病性。为患儿母亲提供羊水穿刺,通过Sanger测序进行产前诊断。结果患儿及其父亲均检测到MAB21L2基因c.151C>G(p.R51G)杂合变异,其母亲、祖父母均未检测到该变异。根据美国医学遗传学学会指南并结合其临床表现,判定c.151C>G(p.R51G)为疑似致病变异。结论MAB21L2基因c.151C>G(p.R51G)变异可能是患儿的发病原因,据此可为患儿的母亲提供产前诊断。

  • 标签: 小眼畸形 MAB21L2基因 全外显子测序
  • 简介:摘要CD99L2(CD99 antigen-like 2)基因位于染色体Xq28,编码高度保守、广泛表达的糖基化跨膜蛋白。自2003年首次报道以来,CD99L2蛋白被认为是一种重要的黏附分子,在炎症反应、白细胞渗出、淋巴瘤中起重要作用。但是,近年越来越多研究发现该基因与孤独症谱系障碍、脑性瘫痪、癫痫等神经系统疾病密切相关,但具体机制仍不清楚,该基因功能至今未明确。该文就CD99L2基因的研究进展进行综述。

  • 标签: CD99L2基因 炎症反应 淋巴瘤 神经系统疾病
  • 简介:Chlamydiatrachomatisoutermembraneprotein2(Ctomp2)isamajorimmunogeninchlamydialinfectionsandahighlygenus-conservedstructuralproteinofallChlamydiaspecies.Topurifytheproteinandtopreparemonoclonalantibodies(mAbs)againstit,therecombinantproteinwasinducedbyIPTG,whichwasconfirmedbySDS-PAGEandpurifiedbymeansofaNi2+-chargedresincolumn.ThedenaturedproteinwasrefoldedintheGSH-GSSHbuffergraduallyandidentifiedbyWesternblotting.ThentheBALB/cmicewereimmunizedwiththerecombinantproteintopreparethemAbagainstCtomp2.TheobtainedmAbswerecharacterized.GenitalspecimensweretestedwithindirectELISAmostlymadeofthemAbandcellculturein84patientswithgenitalsymptoms.Theresultsshowedthathigh-levelexpressionoftherecombinantproteinwasachieved,whichexistedasinclusionbodyandamountedto38%oftotalbacteriumprotein.AmAbagainstCtomp2wasobtained.ItbelongstoIgG2b.Thetiterswereashighas1:40000.TheWesternblottingshowedthatthemAbonlyreactedwiththerecombinantprotein.IthadnocrossingreactionsagainstE.coli,N.gonorhoea,M.hominis,U.urealyticumandM.penetrans.Ithadhighspecifity.Incomparisonwithgoldstandardtest-cellculture,thesensitivities,specificities,positivepredictivevaluesandnegativepredictivevaluesofindirectELISAwere95.24%,100%,100%and98.44%,respectively.Theabove-mentionedresearchworkcontributednotonlytothefurtherstudyofthestructureandfunctionofthisprotein,butalsototheestablishmentofthemethodforitsclinicalapplication,forithadnotbeenreportedbefore.

  • 标签: 蛋白质净化 衣原体 单细胞抗体 临床研究
  • 简介:

  • 标签:
  • 简介:摘要目的分析2020年青海省风疹流行特点和流行风疹病毒(rubella virus, RV)基因特征,为当地优化和完善风疹防控策略提供科学依据。方法汇总国家法定传染病报告系统中的青海省2020年风疹发病数据,分析其流行病学特征;依托青海省麻疹/风疹实验室网络,采集并鉴定2020年疑似风疹暴发和散发病例咽拭子标本,阳性标本盲传3代后获得RV分离株,提取病毒核酸后扩增并测定E1基因的739个核苷酸片段,用于鉴定2020年青海RV株基因型和亚型,并分析其与我国流行RV的分子差异。结果2020年青海省风疹发病呈现明显回升态势,发病年龄已后移至10~19岁年龄组青少年(占比94.9%);2020年从青海省4个风疹高发市州共分离到29株RV病毒株,经鉴定所有RV株均属于2B-L2c基因亚型,也是目前我国RV流行的优势基因亚型。此外,病毒学监测数据显示,2020年青海省存在着不同的2B-L2c基因亚型RV传播链,且一起暴发疫情可能由不同的传播链病毒引起。结论2020年青海省流行RV为2B-L2c基因亚型,该病毒的流行导致了青海省2020年风疹疫情的回升以及部分市州的暴发流行。

  • 标签: 风疹 风疹病毒 2B-L2c基因亚型
  • 简介:Themanagementofcastrate-resistantprostatecancerprogressingaftermaximumandrogenblockade(MAB)hasevolvedinthelastdecadewiththedevelopmentofseveralnoveltherapeuticoptions.However,theinitialtherapeuticstrategyinthesepatientsusuallyinvolveswithdrawalofanti-androgenthatcanbeassociatedwithbiochemicalresponseinapproximately20%ofpatients.Notably,wehaveobservedevidenceofsustainedbiochemicalresponseintwopatientsfollowingsecondandthird-lineMABusingrechallengescheduleofpreviouslyadministeredanti-androgenafterlatentinterval.ThepossibilityofresponsefollowingsequentialMABusingthesameanti-androgenagenthasnotyetbeenreported.

  • 标签: 抗雄激素 前列腺癌 MAB 案例 症状 治疗方案
  • 简介:and evaluating the success of a particular strategy. They have an executive function. In O’Malley and Chamot framework of learning strategies,Oxford’s taxonomy fails to make a distinction between strategies directed at learning the L2 and those directed at using it (Ellis). The last problem is that compensation strategies are considered as a direct type of learning strategies rather than one type of production strategies,cognitive and social/affective. They grounded the study of learning strategies within the information-processing model of learning developed by Anderson. Metacognitive strategies involve consciously directing one’s efforts into the learning task. These strategies are higher order executive skills that may entail planning learning

  • 标签:
  • 简介:摘要目的对一圆头精子症家系的DPY19L2基因进行变异分析,明确其遗传学病因。方法应用全外显子组捕获测序及生物信息学技术对该家系基因组进行分析,Sanger测序及实时荧光定量PCR(quantitative real-time PCR, qRT-PCR)技术对致病基因的变异进行验证。结果全外显子组测序分析、Sanger测序及qRT-PCR验证显示家系两患者及其母亲均存在DPY19L2基因c.384dup(p.Glu129*)杂合变异,两例患者及父亲存在覆盖DPY19L2基因全长约164.5 kb的大片段杂合缺失。结论两例圆头精子症患者DPY19L2基因c.384dup(p.Glu129*)变异及DPY19L2基因缺失是其致病原因,符合常染色体隐性遗传规律。

  • 标签: 圆头精子症 全外显子组测序 DPY19L2基因 基因变异
  • 简介:Thispapercontainsadetailed,selfcontainedandmorestreamlinedproofofthel~2decouplingtheoremforhypersurfacesfromthepaperofBourgainandDemeterin2015.TheauthorshopethiswillserveasagoodwarmupforthereadersinterestedinunderstandingtheproofofVinogradov'smeanvaluetheoremfromthepaperofBourgain,DemeterandGuthin2015.

  • 标签:
  • 简介:NineteenL-N-2-hydroxyethylaminoacidsandL-N,N-bis(2-hydroxyethyl)aminoacidswerepreparedfromthereactionofchlorohydrinwithL-alanine,L-valine,L-leucine,L-isoleucine,L-phenylalanine,L-serine,L-thrcunine,L-glutamicacid,L-asparticacidandglycine.L-N,N,N’,N’-tetra(2-hydroxyethyl)cystinewaspreparedbythereactionofL-cystinewithchlorohydrin.

  • 标签: hydroxyethyl PHENYLALANINE LEUCINE GLYCINE tetra solubility
  • 简介:2型糖尿病(type2diabetesmellitus,T2DM)是一种具有明显异质性的多基因遗传病,又称为复杂性疾病(complexdisease),胰岛素抵抗(insulinresistance,IR)或胰岛素分泌相对不足而引起慢性高血糖构成其发病主要原因。T2DM受环境、遗传、饮食、种族、年龄、生活方式等多种因素的影响,而遗传因素在其发生发展中起着重要作用。2006年Grant等首次发现了核转录因子7类似物2(variantoftranscrip-tionfactor7like2,TCF7L2基因的微卫星DG10S478与T2DM显著相关,更多的相关研究陆续展开,并得出一致结论:TCF7L2是T2DM发生高度相关的易感基因。本文就TCF7L2基因SNPs与T2DM相关性研究现状进行综述。

  • 标签: 多基因遗传病 2型糖尿病 单核苷酸多态性 INSULIN T2DM 胰岛素抵抗
  • 简介:摘要目的总结两例由CYP21A2基因启动子区变异所致的非经典型21-羟化酶缺乏症(nonclassical 21-hydroxylase deficiency,NC-21OHD)患儿的临床特征。方法回顾分析患儿的临床特征以及基因检测的结果。结果两例患儿的主要临床表现分别为性早熟合并骨龄超前/进展控制不佳以及月经紊乱伴多毛。患儿1 CYP21A2基因存在启动子区-126C>T、-113G>A、-110T>C和I173N复合杂合变异,其母亲携带启动子区-126C>T、-113G>A、-110T>C杂合变异,其父亲携带I173N杂合变异。患儿2 CYP21A2基因存在启动子区-126C>T、-113G>A和I2G复合杂合变异,其母亲携带启动子区-126C>T和-113G>A杂合变异,其父亲携带I2G杂合变异。结论对多毛、月经紊乱、骨龄超前/进展控制不佳的患儿,需警惕NC-21OHD的可能性。对CYP21A2基因编码区未检测出变异者应考虑对其启动子区进行分析。

  • 标签: 先天性肾上腺皮质增生 非经典型21-羟化酶缺乏 CYP21A2基因
  • 简介:Peerrevision,asupplementarystrategytoteacherrevisionofwritinginL2classroom,makespassivereceiversofteacherrevisionbecomeactiverevisers,enablingstudentstoinvolveinmoremotivatedlanguagelearning.Benefitsofpeerrevisionanditsimplicationsforteacherandstudentrolesarediscussed.Thisarticlealsotentativelyanalyzeswaysofpreparingstudentsforeffectivepeerrevision.

  • 标签:
  • 简介:在打造新一代数据中心的过程中,把应用系统从昂贵、封闭的UNIX平台迁移到经济、灵活的Linux平台(简称为U2L),一直是近年来优化IT架构、推进IT变革的一项重要举措。时至今日,随着X86技术的成熟,虚拟化、并行计算及云计算的普及,节能减排呼声的高涨,以及戴尔、英特尔、红帽和VMware等开放技术厂商大力推动,U2L迎来了极好的发展时机,越来越多的企业和机构开始加大U2L力度,以此打造更为经济和高效的数据中心。

  • 标签: LINUX平台 UNIX平台 VMWARE 数据中心 IT架构 应用系统
  • 简介:ConsiderL2-projectionuhofuton-degreefiniteelementspaceonone-dimensionaluniformgrids.TwodifferentclassesoftheorthogonalexpansioninanelementforconstructingasuperclosetofunctionuhareproposedandthensuperconvergenceforbothuhandDuhareproved.Whennisoddandnoboundaryconditionsareprescribed,thenuhisofsuperconvergenceatn+1orderGausspointsGn+1ineachelement.Whennisevenandfunctionvaluesontheboundaryareprescribed,thenuhisofsuperconvergenceatn+1orderpointsZn+1ineachelement.Iftheotherboundaryconditionsaregiven,thentheconclusionsarevalidinallelementsthatitsdistancefromtheboundary≥ch|lnh|.Theaboveconclusionsarealsovalid.forn-dergreerectangularelementQ1(n).

  • 标签: Superconvegence L~2-projection FINITE elements.