Genotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A

نویسندگان

1 Associate Professor of Medical Genetics (MD-PhD), Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Science, Yazd, Iran

2 Department of Gynecology and Obstetrics, Faculty of Medicine, Shahid Sadoughi University of Medical Science, Yazd, Iran.

3 PhD student of Biochemistry, Department of Biology, Faculty of Science, Payamnoor University, Tehran, Iran

4 Expert Laboratory of Genetic, Meybod Genetic Research Center , Meybod, Iran

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چکیده

Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene ...