title: Identification of a novel missense mutation in exon 4 of the human factor VIII gene associated with sever hemophilia A patient.
abstract: Hemophilia A is an X-linked congenital bleeding disorder caused by factor VIII deficiency. The factor VIII gene is on the long arm of the X chromosome at Xq28 spans 186 kb and consists of 26 exons. In this study to identify defects in the factor VIII gene, Single-Stranded Conformation Polymorphism (SSCP) analysis was used. A novel missense mutation due to T --> C transition at codon 153 (TGC) of the factor VIII gene which replace a cysteine with an arginine residue, was found in a patient of North-Western of Iran with sever hemophilia A. Direct sequencing of the amplified fragment was performed to confirm the mutation. This study shows that we can use of Polymerase Chain Reaction (PCR) and silver staining of SSCP methods for detecting most of the point mutations causative hemophilia A.
authors.affiliation: Islamic Azad University, Science and Research Campus, Tehran, Iran.
authors.forename: Habib
authors.initials: H
authors.lastname: Onsori
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Hosseinpour
authors.forename: Sheideh
authors.initials: S
authors.lastname: Montaser-Kouhsari
authors.forename: Mohammad
authors.initials: M
authors.lastname: Asgharzadeh
authors.forename: Abbas Ali
authors.initials: AA
authors.lastname: Hosseinpour
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017931:DNA Primers; D005169:Factor VIII