ARTICLE

The normal clearance of LDL by the LDL receptor is dependentuponnormalfunctionofboththeLDLreceptor and of apoB-100. Accordingly, mutations in the LDL receptorgeneandintheapoB-100genehavebeenfound to cause autosomal dominant hypercholesterolemia. Mutations in the LDL receptor gene cause familial hypercholesterolemia, whereas mutations in the apoB-100genecausefamilialdefectiveapoB-100.InFrontlack ofdataongenotypeandphenotypeamongADHpatients in Moroccan populations, we carried up this study to determine genotype ofADH among subjects of north of Morocco,who have increased rates ofTC,LDLc,ApoB and TG. 46 probands were studied. Genomic DNA was isolatedusdescribedpreviously.Directsequencingisused to determine the mutations on genes LDLR,APOB and PCSK9and thegenotypeof the apoE.Wehavedetected forthefirsttimeintheMoroccanpopulationthreeknown polymorphisms and V4238A mutation combined with increased TG levels in three probands. This mutation appears to be common polymorphism. Those patients werehomozygousofallelesE3/E3.Inconclusion,further studiesareneededtoelucidatethemolecularbasisof the dyslipidemiaobservedinthestudiedprobands. Keywords: Heterozygous familial hypercholesterolemia, geneticdiagnosis,lipidphenotype,familialligand-defective apoB100,apoEisoform