Analysis for genotyping Duffy blood group in inhabitants of Sudan, the Fourth Cataract of the Nile

作者：Kempinska Podhorodecka Agnieszka^*; Knap Oktawian; Drozd Arleta; Kaczmarczyk Mariusz; Parafiniuk Miroslaw; Parczewski Milosz; Ciechanowicz Andrzej

来源：Malaria Journal, 2012, 11(1): 115.

DOI：10.1186/1475-2875-11-115

• Duffy blood group
• Malaria
• Sudanese Arabs
• Shagia
• Manasir
• SNP polymorphism
• Real-Time PCR

Background: Genetic polymophisms of the Duffy antigen receptor for the chemokines (DARC) gene successfully protected against blood stage infection by Plasmodium vivax infection. The Fy (a-, b-) phenotype is predominant among African populations, particularly those originating from West Africa, and it is rare among non-African populations. The aim of this study was to analyse the frequency of four Duffy blood groups based on SNPs (T-33C, G125A, G298A and C5411T) in two local tribes of Sudanese Arabs, the Shagia and Manasir, which are both from the region of the Fourth Nile cataract in Sudan.
Methods: An analysis of polymorphisms was performed on 217 individuals (126 representatives of the Shagia tribe and 91 of the Manasir). Real-time PCR and TaqMan Genotyping Assays were used to study the prevalence of alleles and genotypes.
Results: The analysis of allelic and genotype frequency in the T-33C polymorphisms demonstrated a significant dominance of the C allele and CC genotype (OR = 0.53 [0.32-0.88]; p = 0.02) in both tribes. The G125A polymorphism is associated with phenotype Fy(a-, b-) and was identified in 83% of Shagia and 77% of Manasir. With regard to G298A polymorphisms, the genotype frequencies were different between the tribes (p = 0,002) and no single AA homozygote was found. Based on four SNPs examined, 20 combinations of genotypes for the Shagia and Manasir tribes were determined. The genotype CC/AA/GG/CT occurred most often in Shagia tribe (45.9%) but was rare in the Manasir tribe (6.6%) (p < 0.001 Shagia versus Manasir). The FY*A(ES) allele was identified in both analysed tribes. The presence of individuals with the FY*A/FY*A genotype was demonstrated only in the Shagia tribe.
Conclusion: This is probably the first report showing genotypically Duffy-negative people who carry both FY*B-ES and FY*A(ES). The identification of the FY*A(ES) allele in both tribes may be due to admixture of the non-African genetic background. Taken as a whole, allele and genotype frequencies between the Shagia and the Manasir were statistically different. However, the presence of individuals with the FY*A/FY*A genotype was demonstrated only in the Shagia tribe.

• 出版日期2012-4-17