The Lewis Histo-Blood Group System: Molecular Analysis of the 59T>G, 508G>A, and 1067T>A Polymorphisms in an Amazonian Population
The Lewis Histo-Blood Group System: Molecular Analysis of the 59T>G, 508G>A, and 1067T>A Polymorphisms in an Amazonian Population
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DOI：
10.1371/journal.pone.0069908
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发表时间：
2013-07-29
期刊：
影响因子：
3.7
通讯作者：
de Brito, Danielle Calado
中科院分区：
文献类型：
--
作者：
de Oliveira Corvelo, Tereza Cristina;Pompeu de Loiola, Rosane do Socorro;de Brito, Danielle Calado
背景：刘易斯（FUT 3）基因负责Le（a）和Le（B）血型抗原的表达。不合成这些抗原的个体具有刘易斯阴性表型，这是由于存在一些单核苷酸多态性（SNPs），如59 T>G、508 G>A和1067 T>A，其在不同种族中的分布不同。我们的目的是验证这些SNP在Belem-Para-Brazil混合人群中的频率。材料和方法：采用聚合酶链反应/限制性内切酶方法检测FUT 3基因中的这些SNP，而刘易斯表型通过直接血凝法和唾液中的Dot-Elisa测定法在巴西亚马逊东北部贝伦混合人群的150个个体的随机样本中确定。这些SNP的频率分别为47.6%（59 T>G）、17.3%（508 G>A）和5.3%（1067 T>A）。血液和唾液刘易斯表型之间的差异与59 T>G和无效等位基因508 G>A的相对高频率有关。虽然38.6%的人血液中刘易斯阴性，但唾液分析时只有17.24%也呈阴性。结论：我们发现刘易斯血型系统的表型和基因型之间存在显着的一致性。此外，我们获得的FST值揭示了本样本与其代表性祖先群体之间FUT 3 SNP的不同频率。这些观察结果将有助于评价刘易斯抗原作为易感性标志物在某些疾病的遗传关联研究中的作用。
Background: The Lewis (FUT3) gene is responsible for the expression of the Le(a) and Le(b) blood group antigens. The individuals, who not synthesize these antigens have the phenotype Lewis negative, due to the presence of some single nucleotide polymorphisms (SNPs), such as 59T>G, 508G>A and 1067T>A, whose distribution is different in various ethnic groups. Our aim was to verify the frequencies of these SNPs in an admixed population of Belem-Para-Brazil.Materials and Methods: Polymerase chain reaction/restriction enzyme method were used to detect these SNPs in the FUT3 gene, whereas Lewis phenotypes were defined by the direct hemagglutination and in saliva by Dot-Elisa assay in a random sample of 150 individuals from admixed population of Belem in the northeast Brazilian Amazon region.Results: The frequency of these SNPs was detected as 47.6% (59T>G), 17.3% (508G>A) and 5.3% (1067T>A). The discrepancies between blood and salivary Lewis phenotypes are related to the relatively high frequencies of 59Tdiscrepancies between blood and salivary Lewis phenotypes are related to the relatively high frequencies of 59T>G and the null allele 508G>A. Whereas 38.6% of the individuals were Lewis negative based on blood, only 17.24% also tested negative when their saliva were analyzed.Conclusion: We have found a marked consistency between the phenotypes and genotypes of the Lewis blood group system. Furthermore, our obtained FST values reveal distinct frequencies of the FUT3 SNPs between the present sample and its representative ancestral populations. These observations will help to evaluate the Lewis antigens impact as susceptibility markers, in genetic association studies to certain diseases.