de Messias I T, Reis A, de Almeida P T, Mauff G
Laboratório de Immunopatologia, Hospital de Clinicas, Universidade Federal do Parana, Curitiba, Brazil.
Exp Clin Immunogenet. 1994;11(4):192-6.
We describe here the genetic variability of C2, C4 and BF in 225 healthy adult individuals from southern Brazil, including 172 Caucasoids, 47 Mulattos, 3 Blacks and 1 Amerindian. C2 gene frequencies were in accordance with those described for other populations, and two rare variants were observed. The BF allotype frequencies were slightly different between the Caucasoids and Mulattos, the latter having a higher BFF frequency. A new BFS variant, identified as S05 was observed in a Caucasoid individual. The frequencies of C4A and C4B in the Caucasoids were similar to other reported Caucasoid populations; a decrease of the silent allele BQ0, and several rare variants were observed. A higher C4A3 frequency and a remarkable decrease of C4A*Q0 were observed in the Mulattos. In addition, several C4 heteroduplications and aberrant allotypes were observed. Considering the high genetic variability found in a limited number of individuals, one may conclude that due to genetic admixture much heterogeneity might be expected for the MHC class III region in different Brazilian populations.
我们在此描述了巴西南部225名健康成年个体中C2、C4和BF的基因变异性,其中包括172名白种人、47名混血儿、3名黑人以及1名美洲印第安人。C2基因频率与其他人群中所描述的一致,并观察到两个罕见变体。白种人和混血儿之间的BF别型频率略有不同,后者的BFF频率较高。在一名白种人个体中观察到一种新的BFS变体,被鉴定为S05。白种人中C4A和C4B的频率与其他报道的白种人群体相似;沉默等位基因BQ0频率降低,并观察到几个罕见变体。在混血儿中观察到较高的C4A3频率以及C4A*Q0显著降低。此外,还观察到几个C4异源双链和异常别型。考虑到在有限数量个体中发现的高基因变异性,可以得出结论,由于基因混合,不同巴西人群的MHC III类区域可能存在很大的异质性。