SEQUENCE POLYMORPHISM OF HUMAN-COMPLEMENT FACTOR-H
SEQUENCE POLYMORPHISM OF HUMAN-COMPLEMENT FACTOR-H
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DOI：
10.1007/bf00346588
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发表时间：
1988-03-01
期刊：
影响因子：
3.2
通讯作者：
SIM, RB
中科院分区：
文献类型：
--
作者：
DAY, AJ;WILLIS, AC;SIM, RB
H因子是补体系统的主要调节蛋白。完整的 cDNA 编码序列源自重叠克隆，并且已对 1277 位碱基的多态性进行了表征。在四个克隆中，在核苷酸 1277 处有一个 T，在另外两个克隆中，有一个 C。这种 T/C 变化代表了衍生氨基酸序列中位置 384 处的酪氨酸/组氨酸多态性。对胰蛋白酶消化 H 因子产生的肽（从 12 名供体的混合血浆中纯化）进行的蛋白质序列研究证实，该位置同时存在酪氨酸和组氨酸。酪氨酸和组氨酸的比例分别为 2:1，因此这种多态性可能代表 H 因子的两个最丰富的电荷变体 FH1 和 FH2 之间的序列差异。
Factor H is a major regulatory protein of the complement system. The complete cDNA coding sequence has been derived from overlapping clones, and a polymorphism at base 1277 has been characterized. In four clones there is a T at nucleotide 1277 and in two others there is a C. This T/C change represents a tyrosine/histidine polymorphism at position 384 in the derived amino acid sequence. Protein sequence studies on peptides generated by trypsin digestion of factor H, purified from pooled plasma from 12 donors, confirmed the presence of both tyrosine and histidine at this position. Tyrosine and histidine were observed in a ratio 2 " 1, respectively, and therefore this polymorphism is likely to represent a sequence differences between the two most abundant charge variants, FH1 and FH2, of factor H.