Paper Information

Journal:   RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES)   JUNE 2010 , Volume 17 , Number 72; Page(s) 58 To 66.
 
Paper:  IDENTIFICATION OF FIVE NOVEL MUTATIONS IN PLATELET GPIBΑ GENE AMONG IRANIAN BERNARD-SOULIER PATIENTS
 
Author(s):  TAGHAVI S.A., KAZEMI AHMAD*, RASTEGAR LARI GH., ALA F., RASOOLZADEGAN M.
 
* IRAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES, TEHRAN, IRAN
 
Abstract: 

Background & Aim: Bernard-Soulier syndrome (B.S.S) is a rare hereditary bleeding disorder due to molecular defects of platelet GPIb–IX–V. The GPIb-IX-V complex is composed of four chains of GPIba, GPIbb, GPIX and GPV. The largest chain of this complex is GPIba and is responsible for binding to ligand and most of identified mutations belong to this glycoprotein. The aim of this study was to identify the molecular defects of GPIba gene in Iranian Bernard-Soulier patients.
Patients and Method: Twelve Bernard-Soulier patients were selected from data base of bleeding disorders in Comprehensive Clinic of Iranian Hemophilia Center. Diagnostic criteria for B.S.S were based on phenotypic analysis such as platelet counts, inspection of peripheral blood smear and lack of response to restocetin agonist. Genomic DNA was isolated from blood leukocytes of the patients and their parents. The entire amino acid coding region in exon 2 from GPIb
a was divided into five overlapping fragments and PCR amplification was done. Finally, sequence analysis of the coding regions that contain DNA heteroduplexes in CSGE gels was performed.
Results: Sequence analysis revealed five novel mutations in GPIb
a. The mutations include ACCGGCT deletion, GGA insertion in 419-425 position, missense mutations in T709C, G710A and C1759T, and the deletion of 20 nucleotides in 1800-1819 position. All five novel mutations were registered in International Gene Bank and for each mutation RFLP (restriction fragment length polymorphism) design was created.
Conclusion: In the present study, the molecular defects of GPIb
a gene were investigated and five novel mutations were identified among Iranian BSS patients.

 
Keyword(s): BERNARD-SOULIER SYNDROME, GLYCOPROTEIN IBΑ, SEQUENCE ANALYSIS, MUTATION
 
References: 
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