1990 Fiscal Year Final Research Report Summary
Immunological, Biological and Molecular Genetic Study on Prenatal Diagnosis of Hemophilia
| Project/Area Number |
63480239
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Nara Medical University |
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Principal Investigator |
YOSHIOKA Akira Nara Medical University, Pediatrics, Associate Professor, 医学部・小児科, 助教授 (40106498)
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| Co-Investigator(Kenkyū-buntansha) |
KORESAWA Mitsuhiko University of Tsukuba, Obst. & Gynecol, Assistant Professor, 医学部・臨床医学系・産婦人科, 講師 (60107703)
SHIMA Midori Nara Medical University, Pediatrics, Assistant Professor, 医部部・小児科, 講師 (30162663)
NISHINO Masato Nara Medical University, Pediatrics, Assistant Professor, 医学部・小児科, 講師 (60164571)
TANAKA Ichiro Nara Medical University, Pediatrics, Assistant, 医学部・小児科, 助手 (00201616)
NISHIMURA Takuya Nara Medical University, Pediatrics, Assistant, 医学部・小児科, 助手 (00192253)
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| Project Period (FY) |
1988 – 1990
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| Keywords | Hemophilia / Factor VIII / Factor IX / Carrier detection / Prenatal diagnosis / Fetal blood sampling / Chorionic villus sampling / Gene analysis |
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| Research Abstract |
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 sampling
10 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 CVS
For 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 B
Eleven 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
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Research Products
(38 results)
