The identification of SNP 29209 in exon 10 of low density lipoprotein receptor (LDLR) gene using allele-specific PCR (AS-PCR) method / Helen Damos

Familial hypercholesterolemia (FH) is a genetically inherited autosomal dominant disease. Individuals with FH show an elevation in their blood cholesterol level. Polymorphism in LDLR gene is associated with the occurrence ofFH. SNP 29209 A>G is one of the polymorphisms found in exon 10 of this gene. It is a synonymous SNP. The objective of the present study was to detect the presence of SNP 29209 A>G using the allele-specific PCR (AS-PCR) method which is a more rapid and cost-effective approach of SNP detection. All ten subjects tested in this study were found to carry the mutated G allele in which 50% were heterozygous mutant and another 50% were homozygous mutant. The frequency of A allele and G allele in the studied subjects were 16.0% and 84.0% respectively. The G mutant allele appears to have a protective effect against high LDL level. For future plan, AS-PCR method using higher number of subjects should be carried out to determine a more accurate allelic frequency of this SNP. Further studies are needed to provide a more significant relationship between the targeted SNP and FH.