播散性浅表性光化性汗孔角化症mvk基因突变检测-detection of mvk gene mutation in disseminated superficial actinic porokeratosis.docxVIP

shandonguniVersityMasterD皇曼堕里!!型曼CoNTENTSCHINESEABSTRACT··lENGLISHABSTRACT。2ABBREVIATIONS．4CHAPTERlINTRODUCTIoN51．1Commonvariantsofporokemtosis”51．1．1PorokercItosis叮M渤ellilPM)Sj．J．2￡胁8口，pD，D露P，口纫s括6J．j．3PH玎c细fepDrD露er口fDsi譬·81．1．4Porokerntosispnltnnrlsetplantnrisdisseminntn《PPPI玢9J．J．5R口，Pv口，．缸n括矽pD，．口足绷fI孵豇”101．2Diagnosticstudies111．2．1Commonp口thologic俚l乒ndings1l1．2．2Hlstologicn|vnricIlionsnmongporoker砸otictypes·141．3Management15J．．丈J聊缸口，口以d口，口，qgPn豳··151．3．2SHrgicnlman征gement·161．4Disseminatedsuper6ciaIactinicporokeratosis(DSAP)”17J．ZJ印姚朋面地秽”171．4．1．1Incidenceandprevalence171．4．1．2Age171．4．1．3Sex．171．4．1．4Ethnici坶17J．么2砌fJl叩缈s妇蛔··181．4．2．1Predisposingfactors·181．4．2．2EnvironmentaIfactors．181．4．2．3PathoIogy181．4．2．4Genetics．18J．ZjC7跏而哪，_，叠口f船191．4．4Dingnost{cconsiderntions”．211．4．4．1HistoIogic6nding·2l1．4．4．2Dermoscopy22J．Z5D妒M砌，蝴Ds豇”22万方数据———————————————————————————————————————————————————————一墨h塑璺竺璺璺堕坠!∑!竖!堕塑皇!堡!里!曼堡!!堕!!!一一^^CHAPTER2AIMSoFTHESTUDY”=zjCHAPTER3MATE甜ALSANDMETHoDS·243．1Subjects．243．2SampIeco¨ection·253．3DNAextraction．253．4PCRandexonsequencing26CHAPTER4RESULTS．27CHAPTER5DISCUSSION295．1PorokeratosisandDSAPgeneraIdiscussion．295．2Locati仰structureoftheMVKgene．305．3MevaI仰atepathway3l5．4Disorde体causedbymutationsintheMVKgene．32i么j肘匆馏如以站口c讹砌32it2聊纾电D印咒加小P335．4．3M傀ttiplevnri伍ntsQfPoroker饿osis。．3SCHAPTER6CoNCLUSIoN38REFERENCES39ACKNoWLEDGEM[ENTS47LISTOFPAPERS49ACHIEVEMENTS．50PI，BI．ISHEDPAPERS。51万方数据播散性浅表性光化性汗孔角化症MyK基因突变检测硕士研究生：PARIMILEELARANI硕士生导师：ZHANGFUREN专业：DERMATOLOGYANDVENEREOLOGY摘要目的：研究2个中国汉族播散性浅表性光化性汗孔角化症(DSAP)家系患者MvK基因突变。方法：提取2个DSAP家系及10o名无亲缘关系的健康对照外周血DNA，采用PCR扩增患者MVK基因的全部外显子及其侧翼序列，用sanger测序法对PcR扩增产物直接测序检测基因突变。结果：发现1个新的剪切位点突变(c．1040—2AC)和1个已报道的错义突变(c．1094TC)。结论：本研究进一步证实MVK基因突变与DSAP发病相关。[关键词]播散性浅表性光化性汗孔角化症；MVK基因；基因突变万方数据ShandongUniVersityMasterDegreeThesisMutationdetectionofMVKgenewithdisseminatedsuper6cialactinicporoke咫tosisPostgraduate：PAR伽LEELARANITutOr：ZHANGFUI通NSpecialty：DEMToLOGYANDVENEI通OLOGYABSTRACTBackground：Porokeratosisischaracterizedbyoneorm