Simple and convenient detection of a HindIII polymorphic site in intron 19 of factor VIII using PCR

The DNA diagnosis of hemophilia A is based on RFLP-analysis test commonly used to diagnose many hereditary diseases. Specifically, the approach for hemophilia A diagnosis includes detection of BclI, XbaI and TaqI polymorphic sites (intron 18, 22 and extragenic locus St14, respectively). These three...

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Bibliographic Details
Published in:Nucleic acids research 1990, Vol.18 (11), p.3431-3431
Main Authors: SURIN, V. L, ZHUKOVA, E. L, KRUTOV, A. A, SOLOVYEV, G. Y, GRINEVA, N. I
Format: Article
Language:English
Subjects:
Biological and medical sciences
Hematologic and hematopoietic diseases
Medical sciences
Platelet diseases and coagulopathies
polymerase chain reaction
restriction fragment length polymorphism
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Summary:The DNA diagnosis of hemophilia A is based on RFLP-analysis test commonly used to diagnose many hereditary diseases. Specifically, the approach for hemophilia A diagnosis includes detection of BclI, XbaI and TaqI polymorphic sites (intron 18, 22 and extragenic locus St14, respectively). These three variants are informative in more than 90% of individuals. HindIII and BclI polymorphic sites (intron 18 and 19, respectively) demonstrate linkage disequilibrium and their contribution is practically equal. HindIII polymorphism assessment by blot-hybridization is rather inconvenient because alleles have fragments of very similar size (2.7 and 2.6 kb). Here we describe the use of PCR-system to detect this polymorphism; this approach has previously been employed to test the BclI and XbaI alleles.
ISSN:0305-1048
1362-4962