河南省致死性家族性失眠症家系的流行病学调查及遗传规律研究
하남성치사성가족성실면증가계적류행병학조사급유전규률연구
Studies on heredity rule of the first genealogy regarding fatal familial insomnia in Henan province
  • 万方数据
    中华流行病学杂志 중화류행병학잡지
    CHINESE JOURNAL OF EPIDEMIOLOGY
    2009年 1期 1-5 ,共5页

    张锦%韩俊%史晓红%郭万申%夏胜利%石琦%陈建明%赵伟秦%谢志强%申晓靖%李孟磊%雷艳军%石崧%周伟%张保云%高晨%单冰%郭燕军%王得新%许汴利%董小平

    장금%한준%사효홍%곽만신%하성리%석기%진건명%조위진%사지강%신효정%리맹뢰%뢰염군%석숭%주위%장보운%고신%단빙%곽연군%왕득신%허변리%동소평

    朊病毒病%致死性家族性失眠症%家系调查%基因突变 朊病毒病%緻死性傢族性失眠癥%傢繫調查%基因突變
    원병독병%치사성가족성실면증%가계조사%기인돌변
    Prion disease%Fatal familial insomnia%Genealogical investigation%Gene mutation
    目的 调查致死性家族性失眠症(FFI)家系谱特征及家族发病史;分析病例的临床特点和病理学改变;研究FFI家系的流行病学特征及相关基因遗传规律.方法 通过7代135名家族成员的流行病学调查,了解家族史、家族迁徙史及发病史;对患者及部分家族成员抽取静脉血进行PRNP基因PCR扩增,序列测定和Nsp I酶切鉴定;尸检采集脑组织进行神经病理学检测和Western blot法PrPCc蛋白检测.结果 2例确诊患者临床症状典型;11名家族成员死于相似的神经性疾病;32名家族成员血标本检测,其中11人出现PRNP基因178位密码子点突变(D178N),突变检出率34.38%,第129位密码子为甲硫氨酸;病例脑组织海绵样变性和神经元缺失,可检测到PrPSc蛋白.结论 该家系为FFI家系,病例临床症状典型,病理特征明显.流行病学调查、基因特征分析、神经病理学和Westernblot法检测对确立FFI病例和家系有至关重要的作用.
    목적 조사치사성가족성실면증(FFI)가계보특정급가족발병사;분석병례적림상특점화병이학개변;연구FFI가계적류행병학특정급상관기인유전규률.방법 통과7대135명가족성원적류행병학조사,료해가족사、가족천사사급발병사;대환자급부분가족성원추취정맥혈진행PRNP기인PCR확증,서렬측정화Nsp I매절감정;시검채집뇌조직진행신경병이학검측화Western blot법PrPCc단백검측.결과 2례학진환자림상증상전형;11명가족성원사우상사적신경성질병;32명가족성원혈표본검측,기중11인출현PRNP기인178위밀마자점돌변(D178N),돌변검출솔34.38%,제129위밀마자위갑류안산;병례뇌조직해면양변성화신경원결실,가검측도PrPSc단백.결론 해가계위FFI가계,병례림상증상전형,병리특정명현.류행병학조사、기인특정분석、신경병이학화Westernblot법검측대학립FFI병례화가계유지관중요적작용.
    Objective To investigate the epidemiological,genealogic characteristic,familial history of the families with fatal familial insomnia,its clinical and pathological features as well as the heredity rule of related genes.Methods 135 familial members of 7 eras were studied.Vein blood samples from patients as well as from some familial members were collected.PRNP gene was studied with PCR,its serial was determined and then authenticated with Nsp I.Brain tissue was obtained for neuropathological test and PrPSc test with Western blot method.Results Clinical symptoms of the 2 diagnosed cases were typical.11 familial members died of similar neural disease.32 samples of their familial members,codon at D178N of PRNP of 11 members was mutated,with mutation rate as 34.38% while D129N showed as methionine.Brain tissue of both probands denaturalized into spongiform and the nerve fiber was absent but PrPSc protein was identified.Conclusion Genealogy was described in the family with fatal familial insomnia since the patients had typical clinical symptoms and pathological characteristics.It seemed necessary to confirm cases of fatal familial insomnia and their genealogy with epidemiological data and to investigate its gene characteristics as well as with neuropathological and Western blot tests.
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