Screening of Adenomatous Polyposis Coli (APC) Gene Polymorphism Using Allele-Specific Polymerase Chain Reaction (ASPCR) Method

Colorectal cancer (CRC) ranks the top cancer among men and the third most common for women in Malaysia. Approximately 5–10% is caused by heritable genetic mutation. Therefore, early assessment and screening of CRC risk is important. Adenomatous polyposis coli (APC) gene mutations have been shown to associate well with the incidence of CRC in Ashkenazi patients and thus potentially a good genetic marker to assess the risk of CRC. In the present study, allele-specific polymerase chain reaction (ASPCR) method was used to detect the probable single nucleotide polymorphism (SNP) of adenomatous polyposis coli (APC) gene. Primer sequences were (i) 5’-GAT GAA ATA GGA TGT AAT CAG ACG-3’ (forward), (ii) 5’-CAG CTG ACC TAG TTC CAA TCT TTT CTT TCA-3’ (reverse wt) and (iii) 5’-CAG CTG ACC TAG TTC CAA CTT TTC TTT CT-3’ (reverse mt). The housekeeping gene, HGH, was used as internal control. Results showed that both subjects (n = 3) with family history of CRC and the subjects with low risk of CRC (n = 3), carried homozygous wildtype variants. This preliminary result suggested that APC mutation may not be a suitable genetic marker to assess the CRC risk level in Malaysian population.