权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Immunological, Biological and Molecular Genetic Study on Prenatal Diagnosis of Hemophilia

血友病产前诊断的免疫学、生物学和分子遗传学研究

基本信息

批准号：
63480239
负责人：
YOSHIOKA Akira
金额：
$ 4.03万
依托单位：
Nara Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (B)
财政年份：
1988
资助国家：
日本
起止时间：
1988 至 1990
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-63480239/
关键词：
Hemophilia Factor VIII Factor IX Carrier detection Prenatal diagnosis Fetal blood sampling Chorionic villus sampling Gene analysis 血友病A 血友病B RFLP(restriction fragment length polymorphism)第IV因子 CVS(chorionic villi sampling)モノクロー

项目摘要

1) Carrier detection(1) Clotting and immunochemical diagnosis ; It was confirmed that FVIII : C, FVIII : Ag and vWF : Ag were useful for carrier detection of hemophilia A, and that FIX : C, FIX : Ag and ox brain PT were useful for that of hemophilia B.(2) Restriction fragment length polymorphism (RFLP) ; BcII/intron 18 (frequency 27-30%) and XbaI/intron22 (67%) polymorphism in the FVIII locus were useful for carrier detection of hemophilia A. SstI/pX58dIIIc (frequency 40%) and TaqI/pX45h (30%) polymorphism closely to the FIX gene were useful for hat of hemophilia B.2) Sex diagnosis(1) First trimester diagnosis by chorionic villus sampling (CVS) Sex diagnosis was achieved at 9-11 weeks of gestation by the use of RFLP of EcoRI/DYZ1 (Y-chromosome specific gene probe).(2) Second trimester diagnosis by amniocentesis ; Sex diagnosis was also performed by chromosome analysis of amniotic fluid cells.(3) Prenatal diagnosis of hemophilia A by fetal blood sampling10 female fetuses out of 33 fetus … More es went to term uneventfully. For accurate mid-trimester prenatal diagnosis, fetal liver or cord blood from 23 male fetuses at 50% risk was sampled using a needle guided by ultrasound. FVIII : C and FVIII : Ag in the fetal plasma were assayed. Then, 6 affected fetuse were artificially aborted and the remaining 17 fetuses went to term.4) Prenatal diagnosis of hemophilia A by CVSFor accurate first-trimester prenatal diagnosis CVS from 9 fetuses at 25% risk was performed. According to RFLP analysis, 3 cases of 6 female fetuses were carrier and 3 cases were not carrier. Both of them went to term. Two out of the remaining 3 male fetuses were found to be affected and aborted. One was not affected and went to term.5) Prenatal diagnosis of hemophilia BEleven fetuses of 6 carriers were investigated. Four were female and went to term. Three of 7 male fetuses were aborted without prenatal diagnosis. Two of the 4 male fetuses were diagnosed to be affected and aborted, whereas the remaining 2 were not affected and went to term. One woman gave birth to a normal male, however, the other gave birth to hemophilia B patient. This was an only one case of wrong diagnosis. Less

1)携带者检测(1)凝血和免疫化学诊断：FVIII：C、FVIII：Ag和vWF：Ag可用于血友病A的携带者检测，FIX：C、FIX：Ag和牛脑PT可用于血友病B的携带者检测；(2)限制性片段长度多态性(RFLP)；FVIII基因座BCII/内含子18(频率27-30%)和XbaI/内含子22(67%)多态可用于血友病携带者的检测。SSTI/pX58dIIIc(频率40%)和TaqI/pX45h(30%)与FIX基因相近的多态可用于血友病的诊断。2)性别诊断(1)早孕绒毛标本(CVS)的性别诊断是利用EcoRI/DYZ1(Y染色体特异性基因探针)的RFLP技术在孕9-11周进行的；通过对羊水细胞进行染色体分析进行性别诊断。(3)33例胎儿…中10例女婴采集胎儿血进行血友病A的产前诊断更多的ES平安无事地进入了学期。为了准确的孕中期产前诊断，使用超声引导的针头采集了23名风险为50%的男性胎儿的胎儿肝脏或脐带血。测定胎儿血浆中FVIII：C和FVIII：Ag的含量。4)CVSF对血友病A进行产前诊断或对9例风险为25%的胎儿进行早期准确的CVS产前诊断。根据RFLP分析，6例女婴中有3例为携带者，3例为非携带者。他们两人都进入了学期。剩下的3名男性胎儿中有2名被发现受到影响并流产。5)对6名携带者的11例胎儿进行血友病产前诊断。其中四名是女性，她们进入了足月。7个男婴中有3个在没有产前诊断的情况下流产。4个男性胎儿中有2个被诊断为感染并流产，其余2个未受影响并进入足月。然而，一名女性生下了一名正常男性，另一名女性生下了血友病B患者。这是唯一一例误诊病例。较少