对一例中型女性血友病A患者的基因突变的探究.pdfVIP

第四届全国临床检验学术会议 (血液学·体液学-输血学) 对一例中型女性血友病A患者的基因突变研究 蔡晓红王学锋方怡戴菁丁秋兰谢飞王鸿利 200025上海第二医科大学附属瑞金医院临床输血科上海血液学研究所 【摘要】 目的 血友病A是由于FⅧ缺陷引起的最常见的X连锁隐性遗传性疾病．女性患者罕见．本文对一例女性 血友病A(HA)患者家系进行基因分析．以探讨其分子发病机制．方法FⅧ：C等测定进行HA表型诊断；进行外周血核型 检测；进行内含子22倒位和内含子l倒位检测，对F8基因的所有外显子及其侧翼序列进行扩增和测序。对女性惠者母亲的 评估女性患者FⅧ表达的情况．结果表型检测女性患者及其父亲的FⅧ：C分别为3．4％axfl6．9％．内含子22倒位和内含子l 没有发现女性患者的移码突变．mRNA分析揭示女性患者两个FVl等位基因都得到转录．但相对表达量只有正常人的66％． 自其父亲的错义突变5981TC．其中5981TC为国际首次报道，3629-3637insA为国内首次报道． Two MutationsofF8 inaFemalewithModerate A Heterozygous gene Hemophilia Cai Yi,Dai FeL xiaohong,WangXuefeng,Fangding,DingQiulang,Wang,XieWang Institute Second Hongli．ClinicalTransfutionDepartment,ShuanghaiofHematology,RuifinHospital,Shanghai Medical 200025 Unwersi纱．Shanghai We AbstractO Here twomutationsof factorVIIIinafemalewith A． bsject identify coagulation hemophilia Method FVIII：Cetalwasdeterminedusedthe blood were 11他plasma peripheralsamples．Cytogeneticanalyses 22inversionandintronl inversionwere theexonsandexon-intron of performed．Intron excluded．alI boundaries factorVIII were PCRanddirectDNA bueealand studies gene analyzedby sequencing．Maternaluroepithelial were andmRNA ofthefemale and RT．PCRwere performed transcriptionanalysis patientquantitative MolecularstudiesshowedthatthemoderateHAinthefemale wastheresultofa performed．Results patient inheritednovelFVIIImissensemuta