Genetic analysis of C4 deficiency.
Genetic analysis of C4 deficiency.
复制标题
C4 缺乏症的遗传分析。
DOI：
10.1172/jci110021
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
Alper,CA
中科院分区：
文献类型：
--
作者：
Awdeh,ZL;Ochs,HD;Alper,CA
在一个患有该蛋白纯合缺陷的儿童的家庭中，研究了补体第四种成分的遗传性结构多态性。结果表明，包括孩子父母在内的许多家庭成员携带 C4 单倍型 C4A*QO C4B*QO，该单倍型在 Chido (C4B) 或 Rodgers (C4A) 基因座上均未产生可检测到的蛋白质。该家族包含表达 1、2、3 或 4 个 C4 基因的个体，这些个体的平均血清 C4 水平大致反映了结构基因的数量。
The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes.Images