Abstract
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.
Nasir Ali, Sajid Naeem, Suliman Qadir Afridi, Javed Muhammad, Umar Bacha. (2013) Molecular study of Apolipoprotein E gene in familial hypercholesterolemic families , Advancements in Life Sciences, Volume 1 , Issue 1.
-
Views
1177 -
Downloads
91
Next Article
