First report of APOB gene variations in Moroccans

The normal clearance of LDL by the LDL receptor is dependent upon normal function of both the LDL receptor and of apoB-100. Accordingly, mutations in the LDL receptor gene and in the apoB-100 gene have been found to cause autosomal dominant hypercholesterolemia. Mutations in the LDL receptor gene cause familial hypercholesterolemia, whereas mutations in the apoB-100 gene cause familial defective apoB-100. In Front lack of data on genotype and phenotype among ADH patients in Moroccan populations, we carried up this study to determine genotype of ADH among subjects of north of Morocco, who have increased rates of TC, LDLc, ApoB and TG. 46 probands were studied. Genomic DNA was isolated us described previously. Direct sequencing is used to determine the mutations on genes LDLR, APOB and PCSK9 and the genotype of the apoE. We have detected for the first time in the Moroccan population three known polymorphisms and V4238A mutation combined with increased TG levels in three probands. This mutation appears to be common polymorphism. Those patients were homozygous of alleles E3/E3. In conclusion, further studies are needed to elucidate the molecular basis of the dyslipidemia observed in the studied probands.

Key-words:

Heterozygous familial hypercholesterolemia - genetic diagnosis - lipid phenotype - familial ligand-defective apoB 100 - apoE isoform.

Publication History

Received: 21 November 2011

Accepted: 10 February 2012

Article published online:
17 June 2022