Identification of Rs8176719 for Blood Group O in Patients Attending Family Medicine Clinic, Hospital Sultan Abdul Aziz Shah (HSAAS).

Introduction: The genomic length of the ABO gene is 18 kb comprising seven exons. The test tube method is the most common method to determine an individual’s blood group, which is prone to human error during interpretation. As the knowledge advances, so do the methods of determining the blood group. The study aims to compare and evaluate the test tube and molecular techniques, Restriction Fragment Length Polymorphism-Polymerase Chain Reaction (RFLP-PCR), in determining the patient’s blood groups. Methods: RFLP-PCR is a method of amplifying the targeted genomic DNA and subjecting it to restriction enzyme digestion. KpnⅠ was used to recognize the cutting site containing SNP rs8176719. Then, gel electrophoresis was also done to confirm the restriction enzyme digestion pattern, and further sequencing was done to validate the SNP’s presence. Results: Out of 150 patients recruited at FMC, HSAAS, 38% were blood group O and 62% were non-O blood group. They were tested using the test tube method. The results for the molecular test show that KpnⅠ could differentiate and indicate the genotype of each tested sample, which was 96.49% of blood group O were wildtype and 3.51% were heterozygous mutant. The frequency of allele C in blood group O was 1.75% with OR of 0.00054 (95% CI). Single Nucleotide Polymorphism (SNP) is a variation at a single base position in a genomic sequence. Studies found that SNPs can be used to tag specific blood groups; for example, rs8176719 is being used to tag blood group O. Conclusion:The results that were obtained from FMSC HSAAS agreed with research conducted at the National Blood Center of Malaysia, which stated the prevalence of blood group O and AB were 36.7% and 8.98% respectively. KpnⅠ can be used to differentiate the genotype of rs8176719, which tagged blood group O. [ABSTRACT FROM AUTHOR]