Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
+44 1223 790975
ISSN: ISSN: 2157-7412
+44 1223 790975
Zainularifeen Abduljaleel
Department of Medical Genetics Faculty of Medicine,
P.O. Box 715, Makkah 21955
Saudi Arabia
Research Article
Identification of Four Novel Factor VIII Gene Mutations and Protein Structure Analysis using Molecular Dynamic Simulation
Author(s): Faisal A Al-Allaf, Tarek MA Owaidah, Zainularifeen Abduljaleel, Mohiuddin M Taher, Mohammad Athar, Halah Abalkhail, Wajahatullah Khan and Abdellatif BouazzaouiFaisal A Al-Allaf, Tarek MA Owaidah, Zainularifeen Abduljaleel, Mohiuddin M Taher, Mohammad Athar, Halah Abalkhail, Wajahatullah Khan and Abdellatif Bouazzaoui
Hemophilia A is an X-linked recessive hemorrhagic disorder caused by mutations in the factor VIII gene. To find out known and novel causative mutations in Hemophilia A, we carried out genetic analysis among Saudi patients. Twenty six Patients who were negative for inv-1/inv-22 were selected for analysis with Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger sequencing. Furthermore the functional and structural effects of the novel mutations were predicted using Molecular dynamic simulation. The results showed three known large deletions in 6 samples (delE8,9,10,11,12,13,14; delE7,8,9,10; and delE4) and twelve mutations in 18 samples; four of them were novel. The novel mutations detected were two substitutions in exon 8 at position c.1021G>C, p.(Ala341Pro) and position c.1183A>C, p.(Lys395Gln), one substitution in exon13 at position c.1930T>A, p.(Leu644Met), a.. View More»
DOI:
10.4172/2157-7412.1000317