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人类补体第三成分(C'3)的遗传性缺乏。

Inherited deficiency of the third component of human complement (C'3).

作者信息

Alper C A, Propp R P, Klemperer M R, Rosen F S

出版信息

J Clin Invest. 1969 Mar;48(3):553-7. doi: 10.1172/JCI106013.

Abstract

A kindred has been investigated in which seven individuals were found to have half-normal serum concentrations of the third component of complement (C'3). This partial deficiency was transmitted as an autosomal dominant trait. Affected individuals were entirely healthy. Hemolytic complement titers were slightly reduced but immune adherence titers and reagent titrations of the classical complement components were normal.Examination for C'3 allotypes revealed that all affected individuals had patterns resembling those of homozygotes. Analysis of the inheritance of C'3 structural genes disclosed that the most likely mechanism for partial C'3 deficiency in this family was nonexpression of one allele.

摘要

对一个家族进行了调查,发现其中7个人的补体第三成分(C'3)血清浓度为正常水平的一半。这种部分缺陷以常染色体显性特征遗传。受影响的个体完全健康。溶血补体滴度略有降低,但免疫黏附滴度和经典补体成分的试剂滴定结果正常。对C'3同种异型的检测显示,所有受影响个体的模式都类似于纯合子。对C'3结构基因遗传的分析表明,该家族中C'3部分缺陷最可能的机制是一个等位基因不表达。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/566e/535720/24d6fc69accf/jcinvest00209-0155-a.jpg

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