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一例IgA2缺乏症的分子分析

Molecular analysis of a case of IgA2 deficiency.

作者信息

Oliviero S, DeMarchi M, Bast B J, Zegers B J, van Loghem E, de Lange G, Carbonara O

出版信息

J Immunogenet. 1986 Feb;13(1):3-9. doi: 10.1111/j.1744-313x.1986.tb01077.x.

Abstract

A family with two members with selective IgA2 deficiency was analysed by direct gene analysis with different probes for the IgCH region. No gross gene deletions or rearrangements were detected. Genetic analysis based on serological and molecular markers did not rule out linkage with the IgCH region. However, a defect of other genes not linked to the Ig heavy chain region and controlling the expression of IgA may be possible as well.

摘要

对一个有两名选择性IgA2缺乏症患者的家庭,使用针对IgCH区域的不同探针进行直接基因分析。未检测到明显的基因缺失或重排。基于血清学和分子标记的遗传分析并未排除与IgCH区域的连锁关系。然而,也有可能存在其他与免疫球蛋白重链区域不连锁但控制IgA表达的基因缺陷。

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