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另一个具有备解素因子B多态性沉默等位基因(BF QO)的家族。

Another family with a silent allele of properdin factor B polymorphism (BF QO).

作者信息

Bertrams J, Mauff G

出版信息

Hum Genet. 1985;70(4):321-3. doi: 10.1007/BF00295369.

Abstract

In five of eight members of a three generation family the existence of a silent allele of the properdin factor B polymorphism (BF QO) was indicated by immunofixation of BF electrophoretic variants and by the hemolytic overlay after isoelectric focusing of BF allotypes. This was further supported by the results of HLA-A, B, C, DR, C2, C4A, C4B, GLO-typing. BF protein was decreased in all heterozygous BF deficient family members. The absolute hemolytic activity, however, was obviously compensated for by an increased relative functional activity of the normal S or F alleles on the other chromosome.

摘要

在一个三代家庭的八名成员中,有五名成员通过补体因子B多态性(BF QO)沉默等位基因的免疫固定以及BF同种异型等电聚焦后的溶血覆盖试验表明存在该等位基因。HLA - A、B、C、DR、C2、C4A、C4B、GLO分型结果进一步支持了这一点。在所有杂合的BF缺陷家庭成员中,BF蛋白减少。然而,另一条染色体上正常的S或F等位基因相对功能活性的增加明显补偿了绝对溶血活性。

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