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首页> 外文期刊>International journal of immunogenetics >Polymorphisms of transporter associated with antigen processing type 1 (TAP1), proteasome subunit beta type 9 (PSMB9) and their common promoter in African children with different manifestations of malaria.
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Polymorphisms of transporter associated with antigen processing type 1 (TAP1), proteasome subunit beta type 9 (PSMB9) and their common promoter in African children with different manifestations of malaria.

机译：在具有不同疟疾表现的非洲儿童中，与抗原加工类型1（TAP1），蛋白酶体β亚基9型（PSMB9）及其共同启动子相关的转运蛋白多态性。

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摘要

The distribution of gene variants of the antigen processing proteins transporter associated with antigen processing type 1 (TAP1) and proteasome subunit beta type 9 (PSMB9) and of their shared bidirectional promoter was assessed in children with either mild or severe malaria. The genetic study was performed on samples collected during a longitudinal study on malariometric indices in an area hyperendemic for Plasmodium falciparum malaria in Gabon. The allele frequencies of the genes did not differ between the mild and the severe malaria groups. The distributions of alleles among children with distinct phenotypes of severe malaria were similar. A negative association of hypoglycaemia with the PSMB9 promoter variant PSMB9-R was found (odds ratio 0.01; chi2=12.1; P<0.0005; Pc<0.03). The promoter allele TAP1-446G was associated with hyperparasitaemia and absence of hypoglycaemia. TAP1, PSMB9, and TAP1/PSMB9 promoter alleles were in strong linkage disequilibrium. DNA sequencing of the TAP1/PSMB9 promoter region revealed a previously unrecognized single nucleotide polymorphism 455 bp upstream of the TAP1 transcription start site.
机译：在患有轻度或严重疟疾的儿童中评估了与抗原加工类型1（TAP1）和蛋白酶体亚基β9型（PSMB9）相关的抗原加工蛋白转运蛋白的基因变体及其共有的双向启动子的分布。对加蓬地区恶性疟原虫疟疾高流行地区的疟疾计量指标进行纵向研究时，对样本进行了遗传研究。在轻度和重度疟疾组之间，基因的等位基因频率没有差异。在患有严重疟疾不同表型的儿童中，等位基因的分布相似。发现低血糖与PSMB9启动子变体PSMB9-R呈负相关（几率0.01; chi2 = 12.1; P <0.0005; Pc <0.03）。启动子等位基因TAP1-446G与高寄生虫血症和低血糖症缺乏相关。 TAP1，PSMB9和TAP1 / PSMB9启动子等位基因处于强连锁不平衡状态。 TAP1 / PSMB9启动子区域的DNA测序显示TAP1转录起始位点上游455 bp之前未被识别的单核苷酸多态性。

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