Saudi Arabia
Research Article
Mutation Screening of the Factor VIII Gene in Hemophilia A in Saudi Arabia: Two Novel Mutations and Genotype-Phenotype Correlation
Author(s): Faisal A Al-Allaf, Mohiuddin M Taher, Zainularifeen Abduljaleel, Mohammad Athar, Faisal A Ba-hammam, Munir Abdulla, Abdellatif Bouazzaoui, Halah Abalkhail and Tarek MA OwaidahFaisal A Al-Allaf, Mohiuddin M Taher, Zainularifeen Abduljaleel, Mohammad Athar, Faisal A Ba-hammam, Munir Abdulla, Abdellatif Bouazzaoui, Halah Abalkhail and Tarek MA Owaidah
Background: Hemophilia A is an X-linked bleeding disorder caused by mutations in the factor VIII gene (F8C). Molecular testing for the factor VIII gene is difficult due to its large size. More than 1000 different mutations have been described in factor VIII gene. In this study we have investigated the factor VIII gene mutations in Saudi Arabian population. Methods: For genotyping factor VIII cohorts of 110 samples from Saudi Arabian patients undergoing treatment for hemophilia A were collected. All patients were tested for factor VIII coagulant activity on Behring Coagulation System. Genomic DNA was isolated from blood on MagNapure system. Screening for inv-1 was done by multiplex PCR method, and inv-22 was done by ligation (inverse) PCR method. DNA sequencing was performed by Sanger method for all 26 exons of factor VIII gene. PCR products were sequenced on ABI 3500 Genetic analyzer... Read More»
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