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KMID : 0358419940370071401
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Korean Journal of Obstetrics and Gynecology
1994 Volume.37 No. 7 p.1401 ~ p.1412
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The Study on the Diagnosis of Patients and Carriers of Hemophilia A by Using Four Probes: DX 13, St14.1, F814 and p482.6
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정성로
신성수/이재억/이춘근/조율희/유명수
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Abstract
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Homophilia A is one of the most common disease caused y a coagulation-defect. It is caused by the deficiency of factor VIII and is inherited as X-linked recessive. During the past several years, diagnostic methods of hemophilia A have been
developed
considerably, but they merely measured the activity of factor VIII in the blood of the carriers and suspected fetuses. But even in carriers, if the factor VIII of the normal X chromosome is activated and the factor VIII of the abnormal X
chromosome,
inactivated (Lyon theory), the expressed factor VIII is no different from those of normal women, making it of little use in the diagnosis of the disease. In such cases, The diagnosis of the disease can only be made by investigating the sequence
of
the
genomic DNA in hemophilia A.
In this study, the restriction fragment length polymorphisms and polymorphic information content in Koreans were investigated by using four probes: two extragenic probes, DX 13 and St14.1 and two gene-specific, F814 and p482.6. The results were
compared
to decide on which probe should be used first, in the diagnosis of hemophilia A carriers and patients. The accuracy and the information content when using the probes in combination were also studied.
1. Probe DX 13: The allele (A1 and A2) frequencies were 36% and 64% respectively and the polymorphism in formation content, 0.46.
2. Probe St14.1: The allele (B1 to B10) frequencies were 71% in the multiallelic system and 45% in the biallelic system. The heterozygote frequency was 80%.
3. The allele frequencies of BcII(F814) were 79.47% and 20.53%, and the information content, 0.33.
4. The allele frequencies of Xbal(p486.2) were 60.93% and 39.07, and the information content, 0.48. The information content was 0.63 when using both probes.
5. Using both the DX 13 and St14.1 probes, the information content was 92.4%. When using all four probes, it was possible to diagnose 19 out of 20 families(97.1%), with an accuracy of 99.8%. Therefore the use of all four probes can actually be
used in
the diagnosis of a hemophilia A family.
6. The diagnostic accuracies of each probe were as follows: 99.8% in F814 and p482.6, 98% in St14.1 and 95.5% in Dx 13. But, if we are to investigate the fetal status in a homophilia A carrier mother in an out-patient clinical promptly, we
should
choose the St14.1 probe first because the information content can be as high as 86%.
7. Therefore, the prenatal diagnosis of hemophilia A in 19 out of 20 families can be made with an accuracy of 99.8%, Using four probes; two extragenic (DX 13 and St14.1) and two gene-specific(F814 and p482.6).
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