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First Study of the C2491t Nonsense Mutation Frequencyin Moroccan Healthy PopulationK. Hamzi & B. Diakité & W. Hmimech & S. NadifiReceived: 13 May 2013 /Accepted: 4 June 2013 /Published online: 15 June 2013#Springer Science+Business Media New York 2013Abstract The mutation FV Leiden (G1691A) is the mostcommon mutation worldwide with a variable allelic frequen-cy between countries. More frequent in the European andCaucasian populations and rare or absent in African nativepopulation, the FVL was studied in the Moroccan population(They-They et al. Ann Hum Biol 37(6):767–777, 2010) andis totally absent as reported previously by (Mathonnet et al.Thromb Haemost 88(6):1073–1074, 2002). Here, anothermutation in FV (Q773Term) was detected in a Moroccanpatient, which took our interest for this study and establishesthe first epidemiological database for future associated stud-ies concerning neurovascular diseases.Keywords FirstStudy.C2491tNonsenseMutation.MoroccanHealthIntroductionHuman coagulation factor V (FV) is a single-chain glyco-protein that plays an important role in maintaining hemostat-ic balance (Jenny et al. 1994). It circulates in the blood as aninactive procoagulant enzyme. In its active form, FV formsan essential part of the prothrombinase complex that cata-lyzes the conversion of prothrombin to thrombin by factorXa in the presence of calcium and a phospholipid membrane.Activated protein C (APC) inactivates FV through cleavageof the active cofactor at R306, R506, and R679 and requiresFVas a cofactor in the APC-mediated inactivation of factorV III (Tuddenham and Cooper 1994). The gene forcoagulation FV has been mapped to chromosome 1q23 andspans more than 80 kb (Rosing et al. 1997). It consists of 25exons and the messenger RNA encodes a leader peptide of28 amino acids and a mature protein of 2,196 amino acids.Roughly, the heavy chain is encoded by exons 1 to 12 andthe light chain by exons 14 to 25 (Rosing et al. 1997).The entire B domain is encoded by exon 13, whichcontains two tandem repeats of 17 amino acids and 31tandem repeats of nine amino acids that are absent in theB domain of FV III (Rosing et al. 1997). The mutation FVLeiden (G1691A) is the most common mutation world-wide with a variable allelic frequency between countries(Hoekema et al. 1997). More frequent in the Europeanand Caucasian population and rare or absent in Africannative population, the FVL was studied in the Moroccanpopulation (They-They et al. 2010) and is totally absent asreported previously by Mathonnet et al. (2002).Another mutation in FV (Q773Term) was detected in aMoroccan patient (Mathonnet et al. 2002), which took ourinterest for this study and establishes the first epidemiologicaldatabaseforfutureassociatedstudiesconcerningneurovasculardiseases.Patients and MethodsThe study group consisted of 194 unrelated healthy indi-vidual residents in Casablanca representing the majorMoroccan population. Since Casablanca is the industrialcapital of Morocco, there are a lot of migration events fromall countries that the entire major ethnical groups can befound here. Informed consent was obtained from all con-trol individuals.Their DNA was extracted by phenol chloroform proto-col (van Wijk et al. 2001) used to establish the allelicK. Hamzi (*):B. Diakité:W. Hmimech:S. NadifiLaboratory of Human Genetics and Molecular Pathology, MedicalSchool, University Hassan II Casablanca, Casablanca, Moroccoe-mail: khalil.hamzi@gmail.comJ Mol Neurosci (2013) 51:425–427DOI 10.1007/s12031-013-0045-1