Molecular study of Apolipoprotein E gene in familial hypercholesterolemic families

Nasir Ali, Sajid Naeem, Suliman Qadir Afridi, Akhtar Ali



Background: Familial hypercholesterolemia (FH) is understood to be one in all the foremost common hereditary disease and critically associated with Coronary heart condition worldwide. FH is taken into account to be caused because of mutations and polymorphisms within the apolipoprotein E (Apo E) cistron. Exaggerated level of density compound protein LDL-C is that the hallmark of this malady.

Methodology: Seven hypercholesterolemic families were chosen for this study. Case history was taken and pedigree was created in person by visiting every family. Exon3 and exon4 regions of ApoE cistron were amplified using polymerase chain reaction (PCR).After successful amplification, both citrons were sequenced. Single strand conformation polymorphism (SSCP) results were obtained to support the different pattern of single strand polymorphism of studied samples.

Results: The sequencing results of probands from all the seven families showed that six out of seven have Apo E three isoform whereas one family showed change within the sequence from T to C at 112 sequence position of processed macromolecule resulted in amino acid that represents it as Apo E4 isoform.

Conclusion: Our findings show that Apo E3 is more prevalent than Apo E4 and other isoforms in studied population of Pakistan.

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