Genetic Analysis of Five Iranian Patients Affected by Factor X Deficiency

سال انتشار: 1397
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 413

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شناسه ملی سند علمی:

CIGS15_130

تاریخ نمایه سازی: 13 بهمن 1398

چکیده مقاله:

Introduction: Factor X (FX) is a vitamin K-dependent coagulation zymogen. FX is activated (FXa) by both factor VIIa/tissue factor and factor VIIIa/factor IXa. In turn, FXa, which forms the prothrombinase complex together with factor Va, catalyses thrombin formation. FX deficiency may be hereditary autosomal recessive or acquired and estimated to be approximately 1:1,500,000 people. FX protein encoded by a gene (F10) of 27 kb located on chromosome 13, and containing 8 exons. To date, at least 320 pathogenic mutations have been found in the F10 gene, 78% of which are missense mutations. Classification of severity of FX deficiency is based on the FX activity measurement; a measurement of <1% is categorized as severe, 1-5% as moderate and 6-10% is considered as mild.Materials and Methods: In this study five patients affected by F10 deficiency were investigated. Peripheral blood was obtained from patients and DNA extracted using a standard method. Genetic analysis of the F10 gene was performed using Sanger sequencing method.Results: In two patients we found a missense mutation, c.119G> C (p.R40T), in exon 2, and in three patients we detected a missense mutation, c.785G> A (p.G262D), in exon 7 of F10 gene.Conclusion: The c.785G> A (p.G262D) mutation in F10 gene is a common mutation in Iranian and Turkey patients, but the c.119G> C (p.R40T) in a novel mutation we have found in two out five Iranian patients affected by F10 deficiency.

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نویسندگان

Fatemeh Minoochehr

Human Genetics Research Center,Baqiyatallah University of Medical Sciences,Tehran,Iran.

Saeid Morovvati

Human Genetics Research Center,Baqiyatallah University of Medical Sciences,Tehran,Iran.