苏丹尼罗河第四大瀑布地区居民的 Duffy 血型基因分型分析。
Analysis for genotyping Duffy blood group in inhabitants of Sudan, the fourth cataract of the Nile.
机构信息
Medical Biology Laboratory, Pomeranian Medical University, Powstancow Wlkp 72, Szczecin, Poland.
出版信息
Malar J. 2012 Apr 17;11:115. doi: 10.1186/1475-2875-11-115.
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 FYAES allele was identified in both analysed tribes. The presence of individuals with the FYA/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 FYBES and FYAES. The identification of the FYAES 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 FYA/FY*A genotype was demonstrated only in the Shagia tribe.
背景
趋化因子的 Duffy 抗原受体（DARC）基因的遗传多态性成功地保护了对间日疟原虫感染的血期感染。Fy（a-，b-）表型在非洲人群中占主导地位，尤其是来自西非的人群，在非非洲人群中很少见。本研究的目的是分析苏丹阿拉伯的两个当地部落（Shagia 和 Manasir）中基于 SNP（T-33C、G125A、G298A 和 C5411T）的四种 Duffy 血型的频率，这两个部落都来自苏丹第四瀑布地区。
方法
对 217 个人（Shagia 部落的 126 名代表和 Manasir 的 91 名代表）进行了多态性分析。实时 PCR 和 TaqMan 基因分型检测用于研究等位基因和基因型的流行情况。
结果
在 T-33C 多态性的等位基因和基因型频率分析中，在两个部落中，C 等位基因和 CC 基因型均表现出显著的优势（OR = 0.53 [0.32-0.88]；p = 0.02）。G125A 多态性与 Fy（a-，b-）表型相关，在 83%的 Shagia 和 77%的 Manasir 中被发现。关于 G298A 多态性，部落之间的基因型频率存在差异（p = 0.002），未发现单个 AA 纯合子。基于检查的四个 SNP，确定了 Shagia 和 Manasir 部落的 20 种基因型组合。CC/AA/GG/CT 基因型在 Shagia 部落中最为常见（45.9%），但在 Manasir 部落中很少见（6.6%）（p < 0.001 Shagia 与 Manasir）。在两个分析的部落中均发现了 FYAES 等位基因。仅在 Shagia 部落中证明了具有 FYA/FY*A 基因型的个体的存在。
结论
这可能是第一个报告显示具有 FYBES 和 FYAES 的基因型阴性 Duffy 人的报告。在两个部落中发现 FYAES 等位基因可能是由于非非洲遗传背景的混合。总的来说，Shagia 和 Manasir 之间的等位基因和基因型频率存在统计学差异。然而，仅在 Shagia 部落中证明了具有 FYA/FY*A 基因型的个体的存在。
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