A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A.
BACKGROUND
Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutation. Analysis of carrier state can be made indirectly by DNA linkage analysis or directly by identifying the mutation that leads to the disease. The aim of this study was to identification of the causal mutation of the FVIII gene in a haemophilic patient.


METHODS
Our case is a 16-year-old male haemophilia A patient with some symptoms such as recurrent hemarthrosis in left knee. In this study, we used single-stranded conformational polymorphism (SSCP) and conformational sensitive gel electrophoresis (CSGE) methods and direct sequencing to identify the mutation responsible for haemophilia A in our patient.


CONCLUSIONS
We reported a novel missense mutation (GAA→GGA), E1623G, in exon 14 of FVIII gene that is associated with moderate haemophilia A. This new mutation was recorded in GenBank (NCBI) with accession number JF916726.1. This study showed that the use of PCR-CSGE and PCR-SSCP may be useful in detecting most of genetic defects such as point mutations of FVIII gene in haemophilic patients.
Cell and Molecular Biology Department, Marand Branch, Islamic Azad University, Marand, IR Iran.
Habib
H
Onsori
Biology Department, Tabriz University, Tabriz, IR Iran.
Mohammad Ali
MA
Hosseinpour Feizi
Hematology and Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, IR Iran.
Abbas Ali
AA
Hosseinpour Feizi
F8 protein, human; Hemophilia A; Mutation, Missense