Reference typing report for complement component C4
Reference typing report for complement component C4
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DOI：
10.1159/000019079
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发表时间：
1998-01-01
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通讯作者：
Moulds, JM
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作者：
Mauff, G;Luther, B;Moulds, JM
在1998年5月于德国美因茨举行的第7届补体遗传学研讨会期间，进行了补体成分C4分型试验，目的是将现有技术应用于参考C4等位基因/表型的定义和表达单倍型内未表达（Q 0）C4等位基因的识别。3个实验室提交了11份样本，14个参与实验室使用基本蛋白质分型技术进行了检测;此外，每个实验室都提供了当地专家提供的数据。将样本引入一种或多种特征性同种异型或一种同种型的部分或全部不表达的参考分型。对设盲样本进行集中评价，并在全体会议上在参与者中讨论结果。从结果中，样品可以分为一组常见的，容易诊断的表型/同种异型，不太常见，但仍然一致认可的变体，和第三组困难的表型/同种异型。在后一组中，同种异型是新的（C4 A '92'; C4 B '93'）和/或显示部分或全部逆转的抗原性和不寻常的Rodgers/Chido（Rg/Ch）PCR亚型（C4 A '92'; C4 A 12; C4 B '35'; C4 B '13'）。半定量C4-α-链的相对同种型水平的估计值相关以及在每个位点的等位基因的数量，通过琼脂糖凝胶电泳，并优于其他同种型定量方法上级。从参考分型的评价中得出结论，在大多数情况下，识别具有部分或全部逆转Rg/Ch抗原性或单克隆反应性的罕见、异常或杂合C4等位基因仍然很困难;除了同种型依赖性裂解、相对迁移值、用Rg和Ch特异性单克隆抗体的免疫印迹、Rg/Ch PCR分型，最终将需要与已经描述的同种异型进行并排比较。C4 A和C4 B表达表型中未表达等位基因的识别仍然是C4基因分型的主要障碍。最后，DNA分型结果的结论性解释将仅在蛋白质水平的完全同种异型分型结果的背景下实现，并且目前不能取代传统的蛋白质同种异型分型。
During the 7th Complement Genetics Workshop, Mainz, Germany, May 1998, a complement component C4 typing exercise took place with the aim of applying present technologies to the definition of reference C4 alleles/phenotypes and the recognition of nonexpressed (Q0) C4 alleles within expressed haplotypes. Eleven samples were submitted from 3 laboratories and tested by 14 participating laboratories with basic protein-typing technologies; in addition, each laboratory contributed data from local expertise. The samples were introduced to the reference typing for one or more characteristic allotype or for partial or total nonexpression of one isotype. The blinded samples were centrally evaluated and the results discussed among the participants at a plenum meeting. From the results, the samples could be classified into a group of common, easy to diagnose pheno-/allotypes, less common but still unanimously recognised variants, and a third group with difficult pheno-/allotypes. Within the latter group, the allotypes were either new (C4A '92'; C4B '93') and/or showed partial or total reversed antigenicity and unusual Rodgers/Chido (Rg/Ch) PCR subtypes (C4A '92'; C4A 12; C4B '35'; C4B '13'). Semiquantitative C4-alpha-chain estimates of relative isotype levels correlated well with the number of alleles seen at each locus by agarose gel electrophoresis, and were superior to other isotype quantitation methods. From the evaluation of the reference typing it was concluded that the recognition of rare, aberrant or hybrid C4 alleles with partial or total reversed Rg/Ch antigenicity or monoclonal reactivity is still difficult in most instances; besides isotype dependent lysis, relative migration values, immunoblots with Rg- and Ch-specific monoclonal antibodies, Rg/Ch PCR typing, side-by-side comparison with already described allotypes will ultimately be required. The recognition of nonexpressed alleles within C4A and C4B expressed phenotypes remains the major obstacle in C4 genetic typing. Finally, a conclusive interpretation of DNA typing results will be achieved only in the context of complete allotyping results at the protein level, and at present cannot replace conventional protein allotyping.