Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus

@article{Braun1990NullAO,
  title={Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus},
  author={Lorraine Braun and Peter M Schneider and Carolyn M. Giles and J{\"o}rg Bertrams and Christian Prof. Dr. Rittner},
  journal={The Journal of Experimental Medicine},
  year={1990},
  volume={171},
  pages={129 - 140}
}
The two genes for the C4A and C4B isotypes of the fourth component of human complement are located in the MHC class III region. Previous studies have demonstrated the unusual expression of C4 genes in the form of aberrant or duplicated haplotypes. Null alleles of C4A or C4B (AQ0 or BQ0) have been defined by the absence of gene products and occur at frequencies of 0.1-0.3. However, only some C4 null alleles are due to gene deletions, the remainder were thought to be nonexpressed genes. We have… CONTINUE READING

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