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日本备解素因子B的多态性。一种罕见变异体的描述以及与HLA和C2关联的数据。

Polymorphism of properdin factor B in Japanese. Description of a rare variant and data of association with HLA and C2.

作者信息

Tokunaga K, Araki C, Juji T, Omoto K

出版信息

Hum Genet. 1982;60(1):42-5. doi: 10.1007/BF00281262.

Abstract

Polymorphism of the properdin factor B (BF) was investigated using an agarose gel immunofixation electrophoresis in 487 unrelated healthy adult Japanese who were already typed for HLA-A, -B, -C and C2. Besides the previously reported phenotypes in Japanese (S, FS, and F), a rare heterozygous phenotype (tentatively maned FTS) was observed once. The estimated allele frequencies for BSS, BFF, and FBFT (F Tokyo) were 0.801, 0.198, and 0,001 respectively. The relative electrophoretic mobility of the variant band of type FTS was measured by Dr. G Mauff to be F 0.75. The conversion fragment Bb of the type showed a double-banded pattern. BF hemolytic activity of the FTS individual was at the same level as other phenotypes. Statistical tests for the phenotypic data of BF with HLA-A, -B, -C, and C2 indicated the presence of the following significant associations in Japanese: Aw33-BFF, A11-BFS, Aw24-BFS, B15-BFF, B17-BFF, Bw44-BFF, B7-BFS, Bw52;-BFS, BW54-BFS, BW59-BFS, Cw3-BFF, C2AT-BFF, and C2A'-BFF.

摘要

采用琼脂糖凝胶免疫固定电泳法,对487名已进行HLA - A、- B、- C和C2分型的无亲缘关系的健康成年日本人进行备解素因子B(BF)多态性研究。除了日本人中先前报道的表型(S、FS和F)外,还观察到1例罕见的杂合子表型(暂命名为FTS)。估计BFS、BFF和BFFT(F东京)的等位基因频率分别为0.801、0.198和0.001。G. Mauff博士测得FTS型变异带的相对电泳迁移率为F 0.75。该型的转化片段Bb呈双带模式。FTS个体的BF溶血活性与其他表型处于同一水平。对BF与HLA - A、- B、- C和C2的表型数据进行统计检验,结果表明在日本人中存在以下显著关联:Aw33 - BFF、A11 - BFS、Aw24 - BFS、B15 - BFF、B17 - BFF、Bw44 - BFF、B7 - BFS、Bw52 - BFS、BW54 - BFS、BW59 - BFS、Cw3 - BFF、C2AT - BFF和C2A' - BFF。

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