Study on gene diagnosis of haemophilia A.
We have successfully diagnosed 24 individuals of 5 haemophilia A pedigrees with RFLP linkage analysis and gene amplification in vitro (PCR) technique. Detecting with the I14-E18, we found the carriers of family A and B were not heterozygotes of Bcl I RFLP. They were homozygotes of 3.0 kb/3.0 kb and 2.3 kb/2.3 kb respectively, while the carriers of family C and D were heterozygotes of 3.0 kb/2.3 kb and 3.3 kb/2.3 kb respectively. So it could be made gene diagnosis with Bcl I RFLP in family C and D. In family D, pathologic gene was linked to 3.3 kb band. We have exactly made gene diagnosis to family A and B with RFLP linkage analysis after PCR. Our results showed that the carriers of family A and B all were heterozygotes of 142 bp/99 bp, In family A and B, pathologic FVIII gene was linked to 142 bp fragment. With Bgl II/DX13, we made a RFLP linkage analysis of haemophilia A fetus at the early pregnant period, whose mother was heterozygote of 5.8 kb/2.8 kb, and the fetus was hemizygote of 2.8 kb/-. So it was very clear that the fetus was patient of haemophilia A. We suggested that the pregnant woman to induce abortion to prevent a sick baby from being born.
Liu
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Department of Medical Genetics, Tongji Medical University, Wuhan.
Guo
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S
Zhong
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N
D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005838:Genotype; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005169:Factor VIII; D004247:DNA