Nouha Bouayed Abdelmoula

By Nouha Bouayed Abdelmoula and Balkiss Abdelmoula

Venous and arterial thrombosis are complex disorders involving several genetic inherited thrombotic and environmental risk factors as well as many mechanistic pathways including those of hemostatic, inflammatory and oxidative homeostasis. To provide an overview of genetic polymorphisms associated with thrombotic disorders, we studied related pathways and mechanisms of venous and arterial thrombosis along with their genetic polymorphisms in association with their clinical significance. We considered classical polymorphisms in the coagulation pathway factors, particularly the thrombophilia predisposition factors: Factor V, Prothrombin and MTHFR as well as PROC, PROS and antithrombin III. Other known and novel genetic polymorphisms having an impact on the pathogenesis of and the susceptibility to venous and/or arterial thrombotic disorders, in particular those involving inflammatory, immune and oxidant/antioxidant/redox signaling systems, were reviewed.

Part of the book: Genetic Polymorphisms

By Nouha Bouayed Abdelmoula, Samir Aloulou, Sonda Kammoun, Aymen Damak, Mona Rekik, Saloua Ben Amor, Oldez Kaabi and Balkiss Abdelmoula

22q11.2 deletion syndrome is a genomic disorder with a broader clinical and genetic spectrum. To exclude the presence of 22q11.2 microdeletion, we optimize a PCR-RFLP analysis of three SNP located in the typically proximal 22q11.21 deleted region of 1.5 Mb. PCR reactions, optimized with a Touch-Down program, were performed using three pairs of primers. The amplicons were cleaved by three restrictive enzymes: HaeIII, CviAII, and BsrI applied respectively, for rs4819523, rs4680, and rs5748411. The efficiency of this PCR RFLP assay was confirmed in the light of its application in a small cohort of 10 Tunisian patients, having a congenital heart defect and a known status of 22q11 deletion by FISH and MLPA. The principle of the proximal 22q11.2 microdeletion, applied with exclusion technique seems to be interesting but further population studies for the determination of the heterozygosity rate of the polymorphic 22q11 region markers are needed, particularly in North Africa.

Part of the book: Advances in Genetic Polymorphisms