人类补体的第八个组分：C8A（C81）多态性的分子基础

The eighth component of human complement: molecular basis of C8A (C81) polymorphism.

作者信息

Zhang L, Rittner C, Sodetz J M, Schneider P M, Kaufmann T

机构信息

Institute of Legal Medicine, Johannes Gutenberg University, Mainz, Germany.

出版信息

Hum Genet. 1995 Sep;96(3):281-4. doi: 10.1007/BF00210407.

DOI:10.1007/BF00210407

PMID:7649542

Abstract

Using an exon-specific polymerase chain reaction (PCR) followed by direct DNA sequence analysis we have analyzed the polymorphism of the alpha-chain of the eighth component of human complement (C8) at the DNA level. We found that two common alleles, C8AA and C8AB, are characterized by the substitution of a single amino acid (Gln to Lys), which is caused by a point mutation of a single nucleotide (C to A) in exon 3 at position 187 of the mature C8 alpha cDNA sequence. Based on this mutation, an allele-specific PCR was designed detecting the two alleles of C8A. We applied this method to type the C8A polymorphism using DNA samples from a Chinese Han population. The comparison with the data of protein typing of the same samples proved that the described method is efficient and reliable for the identification of C8A genotypes and may be valuable for further application in population studies and forensic science.

摘要

我们采用外显子特异性聚合酶链反应（PCR），随后进行直接DNA序列分析，在DNA水平上分析了人类补体第八成分（C8）α链的多态性。我们发现，两个常见等位基因C8AA和C8AB的特征是单个氨基酸的替换（谷氨酰胺替换为赖氨酸），这是由成熟C8α cDNA序列第187位外显子3中单个核苷酸的点突变（C替换为A）引起的。基于此突变，设计了一种等位基因特异性PCR来检测C8A的两个等位基因。我们应用该方法对中国汉族人群的DNA样本进行C8A多态性分型。将该方法与相同样本的蛋白质分型数据进行比较，证明所描述的方法对于鉴定C8A基因型是高效且可靠的，并且可能对群体研究和法医学的进一步应用具有价值。