Layrisse Z, Guedez Y, Dominguez E, Herrera F, Soto M, Balbas O, Matos M, Alfonzo J C, Granados J, Scorza J
Venezuelan Institute for Scientific Investigations, School of Bioanalysis, Caracas, Venezuela.
Hum Immunol. 1995 Dec;44(4):228-35. doi: 10.1016/0198-8859(95)00111-5.
Extended HLA haplotypes among Bari Amerindians living at the Perija Range on the limits between Colombia and Venezuela have been defined using serology for class I, electrophoresis and immuno-fixation for Bf and C4, and PCR-SSO for class II loci typing. Haplotypes were assigned based on family studies and gene frequencies were calculated using a subset of less related subjects selected from the genealogy. No rare class III variants were observed, but the characteristic low HLA diversity of isolated Amerindians populations present also in the Bari extends to Bf and C4. Thus there were only 22 different haplotypes segregating in families when nine loci were considered. All of them except three carried BfS, C4A3, C4B1. The null allele C4AQ0 reached a frequency of 0.147 and was predominantly present in A24 Cw7 B39 DRB1*0411 haplotypes. In contrast to what has been reported using HLA alleles or class I haplotype frequencies and other isolated South American tribes, genetic distance estimates based on A-Cw-B-DR haplotype frequencies show a closer relationship between the two linguistically but geographically distant Venezuelan tribes, the Bari and the Warao, as compared to two culturally different Brazilian populations. The information reported here will be useful for identifying ancestral haplotypes in native peoples of America, for population comparison, and for discussing the differential influence of MHC haplotype diversity and population survival when similar data on other Amerindian tribes becomes available.
利用血清学方法进行I类分型、电泳和免疫固定法检测Bf和C4以及聚合酶链反应-序列特异性寡核苷酸探针（PCR-SSO）技术对II类基因座进行分型，已确定了居住在哥伦比亚和委内瑞拉边界佩里哈山脉的巴里美洲印第安人中的扩展HLA单倍型。单倍型是根据家系研究确定的，基因频率是使用从家谱中挑选出的亲缘关系较弱的受试者子集计算得出的。未观察到罕见的III类变体，但孤立美洲印第安人群体特有的低HLA多样性在巴里人群中也存在于Bf和C4中。因此，当考虑9个基因座时，家族中仅有22种不同的单倍型分离。除了三种单倍型外，所有单倍型均携带BfS、C4A3、C4B1。无效等位基因C4AQ0的频率达到0.147，并且主要存在于A24 Cw7 B39 DRB1*0411单倍型中。与使用HLA等位基因或I类单倍型频率以及其他南美孤立部落所报道的情况相反，基于A-Cw-B-DR单倍型频率的遗传距离估计显示，与两个文化不同的巴西人群相比，两个在语言上不同但地理上相距遥远的委内瑞拉部落——巴里部落和瓦劳部落之间的关系更为密切。本文报道的信息将有助于识别美洲原住民的祖先单倍型、进行人群比较，以及在获得其他美洲印第安部落的类似数据时，讨论MHC单倍型多样性和人群生存的差异影响。
