Human complement component C8

FEBS Letters

Nöthen, Markus M.¹  Hemmer, Susanne¹  Dewald, Georg¹ 

[1] Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, D-53111 Bonn, Germany

关键词: Complement;    Component C8;    Polymorphism;    Isoelectric focusing;    Thrombospondin;    MAC;    membrane attack complex;    IEF;    isoelectric focusing;    PCR;    polymerase chain reaction;    PBS;    phosphate-buffered saline;    BSA;    bovine serum albumine;    bp;    base pair;    RFLP;    restriction fragment length polymorphism;    TSR;    thrombospondin repeat;   

DOI  :  10.1016/0014-5793(94)80140-1

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

The β-chain of human complement component C8 exhibits a structural genetic polymorphism: using isoelectric focusing two major allotypes can be identified (C8B B (‘basic’) and C8B A (‘acidic’)). In the present report we describe a sequence polymorphism of the C8B gene (codon 63: AGA → GGA) and demonstrate that the resulting amino acid substitution (Arg → Gly) consistently differentiates between the two common charge variants of the C8β chain; the C8B B allotype is characterized by an Arg and the C8B A allotype by a Gly residue in position 63 of the C8β polypeptide chain.

【 授权许可】

Unknown