Abstract
Background and Objective: The Duffy blood group is clinically significant in transfusion medicine, and is based on the presence of glycoproteins known as Fy antigens on the surface of red blood cells. In Saudi Arabia, serological studies on blood groups, including Fy antigens have been undertaken, however the population distribution of FY alleles and genotypes requires further elucidation. Therefore, we analysed samples from random Western Saudis blood donors to establish the frequency of FY alleles and genotypes in this cohort. Materials and Methods: Touchdown PCR and DNA sequencing was used to analyse the following single nucleotide polymorphisms, c.125G>A, c.1-67T>C and c.256C>T, in 349 random blood donors from Jeddah and Makkah. The c.298G>A polymorphism was used to determine the allele designation of weak FY alleles. Results: Our investigation showed no significant differences between Makkah and Jeddah blood donors, except for the c.125G>A polymorphism, where the A allele was significantly higher in Jeddah donors (odds ratio (OR) = 1.56 (1.09-2.24)). Most donors (39%) had the homozygous FY*02N.01/FY*02N.01 genotype, similar to African populations. Seven individuals had the FY*01N.01/FY*02N.01 genotype. Five had the predicted genotypes of FY*02/FY*02W.01, FY*01/FY*02W.01, FY*01/FY*01W.02 and FY*02W.01/FY*02N.01. The remaining donors had predicted genotypes that expressed Fy antigens on the erythrocyte surface. Conclusion: The molecular genetic background of Western Saudis is similar to African populations, however in terms of allele and genotype frequencies, Western Saudi Arabia contains a unique genetic pool, distinct to other populations.