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人类补体第三成分(C'3)的基因多态性。

Genetic polymorphism of the third component of human complement (C'3).

作者信息

Alper C A, Propp R P

出版信息

J Clin Invest. 1968 Sep;47(9):2181-91. doi: 10.1172/JCI105904.

Abstract

Polymorphism of human C'3 has been defined by prolonged agarose electrophoresis of fresh serum. At least four, and probably five, alleles have been identified by the electrophoretic mobilities of gene products. Inheritance of three alleles, F(1) F, and S, is consistent with the autosomal condominant type. The inheritance of S(1) is probably codominant and that of F(0.8) is not known. Of the 15 phenotypes predicted by these alleles, eight have been observed. The allotypes appear to differ in net surface charge at pH 8.6, but show no obvious differences in complement activity, in molecular size, or in binding of Ca(++). The concentrations of the two gene products in serum from all known heterozygotes are approximately equal. The S gene is most common in the three major races of man. The F gene is relatively common in Caucasians, less common in American Negroes, and relatively uncommon in Orientals.

摘要

人类补体C3的多态性已通过新鲜血清的长时间琼脂糖电泳得以界定。通过基因产物的电泳迁移率已鉴定出至少四个,可能五个等位基因。三个等位基因F(1)、F和S的遗传符合常染色体共显性类型。S(1)的遗传可能是共显性的,而F(0.8)的遗传情况尚不清楚。这些等位基因预测的15种表型中,已观察到8种。同种异型在pH 8.6时净表面电荷似乎有所不同,但在补体活性、分子大小或Ca(++)结合方面未显示出明显差异。所有已知杂合子血清中两种基因产物的浓度大致相等。S基因在人类的三大主要种族中最为常见。F基因在白种人中相对常见,在美国黑人中较少见,在东方人中相对不常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35f4/297379/b2f955ef3517/jcinvest00244-0251-a.jpg

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