Alcântara V M, De Lourenço M A, Salzano F M, Petzl-Erler M L, Coimbra C E, Santos R V, Chautard-Freire-Maia E A
Department of Medical Pathology, Federal University of Paraná, Curitiba, Brazil.
Hum Biol. 1995 Oct;67(5):717-26.
The genetic variability of butyrylcholinesterase, determined by the BCHE and CHE2 loci, was examined in nine Brazilian Indian groups. In addition, a search for the presence of the BCHEF allele was also performed in eight other Brazilian Indian samples and in five admixed (black-Indian-white) rural Amazonian communities previously studied for the CHE2 locus and the BCHEA allele. In the Indian populations the frequency of the BCHEF allele varied from 0 to 7.1% +/- 3.4 and the frequency of the CHE2 C5+ phenotype ranged from 1.4% +/- 1.4 to 45.9% +/- 3.8. This study seems to be the first to report the presence of the BCHEF allele in native Americans. The BCHEA allele appeared in one Indian group (1.4% +/- 1.0), and we suggest that its existence in this tribe and in other native Americans can be explained by gene flow from white populations. Gene flow may also be the reason for the occurrence of the BCHEF allele in Brazilian Indians, whereas the CHE2C5+ allele may have been present in the paleo-Indians. The distributions of both the BCHEF allele and the CHE2 C5+ phenotype in Brazilian Indians seem to be the result of the action of random genetic drift.
通过BCHE和CHE2基因座确定的丁酰胆碱酯酶的遗传变异性，在九个巴西印第安人群体中进行了检测。此外，还在其他八个巴西印第安样本以及五个之前针对CHE2基因座和BCHEA等位基因进行过研究的混合（黑人-印第安人-白人）亚马逊农村社区中，寻找BCHEF等位基因的存在情况。在印第安人群体中，BCHEF等位基因的频率在0至7.1%±3.4之间变化，CHE2 C5+表型的频率在1.4%±1.4至45.9%±3.8之间。这项研究似乎是首次报道美洲原住民中存在BCHEF等位基因。BCHEA等位基因在一个印第安群体中出现（1.4%±1.0），我们认为它在这个部落以及其他美洲原住民中的存在可以通过来自白人种群的基因流动来解释。基因流动也可能是巴西印第安人中出现BCHEF等位基因的原因，而CHE2C5+等位基因可能在古印第安人中就已存在。巴西印第安人中BCHEF等位基因和CHE2 C5+表型的分布似乎是随机遗传漂变作用的结果。
