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DOI: 10.4103/1947-489X.210765
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
© 2012. The Libyan Authorityof Scientific Research and Technologyand the Libyan Biotechnology Research Center. All rights reserved. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License,permitting copying and reproductionso long as the original work is givenappropriate credit. Contents may not be used for commercial purposes, oradapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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