Departamento de Química, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 14040-901, Ribeirão Preto-SP, Brazil.
Hum Immunol. 2010 Apr;71(4):428-31. doi: 10.1016/j.humimm.2010.01.014. Epub 2010 Feb 4.
The HLA-G gene is predominantly expressed at the maternal-fetal interface and has been associated with maternal-fetal tolerance. The HLA-G0113N is a null allele defined by the insertion of a premature stop codon at exon 2, observed in a single Ghanaian individual. Likewise the G0105N allele, the occurrence of the HLA-G0113N in a population from an area with high pathogen load suggests that the reduced HLA-G expression in G0113N heterozygous placentas could improve the intrauterine defense against infections. The presence of the G0113N allele here was investigated in 150 Amerindians from five isolated tribes that inhabit the Central Amazon and in 295 admixed individuals from the State of São Paulo, Southeastern Brazil, previously genotyped for HLA-G. No copy of the G0113N null allele was found in both population samples by exon 2 sequence-based analysis, reinforcing its restricted occurrence in Africa.
HLA-G 基因主要在母胎界面表达，与母胎耐受有关。HLA-G0113N 是一个缺失等位基因，由外显子 2 中的提前终止密码子插入定义，仅在一个加纳个体中观察到。同样，HLA-G0105N 等位基因，HLA-G0113N 在高病原体负荷地区人群中的出现表明，G0113N 杂合胎盘中 HLA-G 的表达减少可能会改善宫内抗感染防御能力。本研究调查了来自中亚马逊地区的五个与世隔绝的部落的 150 名美洲印第安人和来自巴西东南部圣保罗州的 295 名混合个体中 HLA-G 基因的 G0113N 等位基因的存在情况。通过外显子 2 序列分析，在两个群体样本中均未发现 G0113N 缺失等位基因的拷贝，这进一步证实了它在非洲的局限性分布。
