coagulation factor xiii-a a614t gene variation is suggestive of founder effect in iranian patients with sever congenital factor xiii deficiency

نویسندگان

majid naderi

shadi tabibian

shaban alizadeh

zahra sadat abtahi

چکیده

background: factor xiii (fxiii) is a heterotetramer composing two subunits including fxiii-a and fxiii-b. several common gene variations were observed in fxiii-a gene with obvious ethnic difference. this study assessed pattern of tyr204phe as a common fxiii-a gene variation among iranian population. materials and methods: this study was conducted on eighty iranian unrelated individuals. genotype analysis for factor xiii-a tyr204phe gene variation was performed for all individuals. results: molecular analysis of these iranian populations revealed that all studied patients were homozygous for tgg cgg mutation at codon 187, in exon 4 of fxiii-a1 gene. conclusion: tyr204phe gene variation is one of the most common mutations of fxiii-a subunit that shows a different pattern in iranian population.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Factor XIII deficiency: a review of literature

Coagulaon factor XIII gene, protein structure and funcon Coagulaon factor XIII (FXIII) is a tetrameric (FXIII- A2B2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a fre...

متن کامل

Congenital factor XIII deficiency in a neonate.

Pelvic examination showed that it was normal and adequate for vaginal delivery. Her haemoglobin at the time of booking was 12 g/dl, group 0, rhesus positive. Haemoglobin electrophoretic pattern was A+C. Serological test was negative. Urine analysis showed no abnormality. The pregnancy progressed normally and she went into labour spontaneously at term. On 18 February 1976, after being in labour ...

متن کامل

Congenital factor XIII deficiency in a neonate

Pelvic examination showed that it was normal and adequate for vaginal delivery. Her haemoglobin at the time of booking was 12 g/dl, group 0, rhesus positive. Haemoglobin electrophoretic pattern was A+C. Serological test was negative. Urine analysis showed no abnormality. The pregnancy progressed normally and she went into labour spontaneously at term. On 18 February 1976, after being in labour ...

متن کامل

Recombinant factor XIII (rFXIII): a novel treatment of congenital factor XIII deficiency

2015 Factor XIII (FXIII) is composed of two catalytic A subunits and two carrier B subunits. Following activation by thrombin FXIII becomes plasma transglutaminase, which crosslinks the γ-glutamyl-ɛ-lysine residues of fibrin chains stabilizing fibrin clot. Congenital deficiency of factor XIII results in a severe life-long hemorrhagic disorder, abnormal wound healing in about 30% of patients and...

متن کامل

Current understanding in diagnosis and management of factor XIII deficiency

Factor XIII or "fibrin-stabilizing factor," is a transglutaminase circulates in the blood circulation as a hetero tetramer with two catalytic A subunits and two carrier B subunits. This important coagulation factor has a crucial role in clotting cascade and produces strong covalent bonds between soluble formed fibrin monomers during coagulation. This stable cross linked fibrin strands are resis...

متن کامل

Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency.

Congenital factor XIII (FXIII) deficiency is a rare, autosomal-recessive disorder, with most patients having an A-subunit (FXIII-A) deficiency. Patients experience life-threatening bleeds, impaired wound healing, and spontaneous abortions. In many countries, only plasma or cryoprecipitate treatments are available, but these carry a risk for allergic reactions and infection with blood-borne path...

متن کامل

منابع من

با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید


عنوان ژورنال:
journal of cellular and molecular anesthesia

جلد ۱، شماره ۱، صفحات ۱۹-۲۲

میزبانی شده توسط پلتفرم ابری doprax.com

copyright © 2015-2023