Detection of mutations of hemophilia A by PCR-RFLP with Vent DNA polymerase
- Author:
Nguyen Hoai Giang
- Publication Type:Journal Article
- Keywords:
hemophilia A
- MeSH:
Hemophilia A;
Polymerase Chain Reaction;
DNA
- From:Journal of Medical Research
2005;38(5):10-14
- CountryViet Nam
- Language:Vietnamese
-
Abstract:
Study on blood samples of 29 patients with hemophilia A and 25 normal people to determine the mutation of intron 18 and 19 of factor VIII by PCR-RFLP using Vent DNA polymerase assay. PCR and RFLP methods were used. Results: 16/29 (55%) of haemophilia A patients has the mutation in intron 18 of factor VIII gene and none of them has the mutation in intron 19. This PCR-RFLP assay can be applied for detection of mutations and these methods can be used for carrier analysis and prenatal diagnosis of hemophilia A.
