High-throughput analysis of the C4 polymorphism by a combination of MLPA and isotype-specific ELISA’s.

Complement factor C4 exists as two main isotypes, C4A and C4B, with different functional properties and encoded by two separate genes. In addition, C4A and C4B genes can occur in multiple copies and may carry a retroviral HERV-K(C4) insertion in intron 9.

To study association of C4 polymorphism with disease, accurate genotyping and phenotyping is important. However, current techniques are very laborious and not suitable to study large patient groups.

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Therefore, we aimed to develop novel assays for C4 geno- and phenotyping, to make high throughput possible. To study C4 gene copy number variation, a novel Multiplex Ligation-dependent Probe Amplification (MLPA) assay was set up with three synthetic probe parts. C4A and C4B protein levels were measured by isotype-specific ELISA’s.