Identification of a Novel Missense Mutation in Exon 4 of the Human Factor VIII Gene Associated with Sever Hemophilia a Patient


	Pakistan Journal of Biological Sciences
	Year: 2007 \| Volume: 10 \| Issue: 23 \| Page No.: 4299-4302 DOI: 10.3923/pjbs.2007.4299.4302

Identification of a Novel Missense Mutation in Exon 4 of the Human Factor VIII Gene Associated with Sever Hemophilia a Patient

Habib Onsori, Mohammad Ali Hosseinpour , Sheideh Montaser-Kouhsari , Mohammad Asgharzadeh and Abbas Ali Hosseinpour

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.

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How to cite this article:

Habib Onsori, Mohammad Ali Hosseinpour , Sheideh Montaser-Kouhsari , Mohammad Asgharzadeh and Abbas Ali Hosseinpour , 2007. Identification of a Novel Missense Mutation in Exon 4 of the Human Factor VIII Gene Associated with Sever Hemophilia a Patient. Pakistan Journal of Biological Sciences, 10: 4299-4302.

DOI: 10.3923/pjbs.2007.4299.4302

URL: https://scialert.net/abstract/?doi=pjbs.2007.4299.4302

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