Identification of two new C4 alleles by DNA sequencing and evidence for a historical recombination of serologically defined C4A and C4B alleles

J. Hui, A. Oka, M. Tomizawa, G. K. Tay, J. K. Kulski, W. J. Penhale, S. P.A. Iaschi, S. Makino, G. Tamiya, H. Inoko

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Nucleotide polymorphisms of the C4 genes were investigated by direct sequencing of seven different homozygous typing cells from the 10IHW panels. Two novel sequences were identified within the C4d region of the C4 genes. Our sequencing analyses extend previous findings suggesting that a recombination hot spot is likely to have occurred between codon positions 1157 and 1186 within the C4d region. The classification of electrophoretically defined C4A and C4B alleles can be further subtyped by sequencing. Because the central major histocompatibility complex region that carries various copies of the C4 gene has been associated with a range of disorders; further analysis at the sequence level within the C4 locus may provide informative genetic markers for the investigation of disease-associated polymorphisms.

Original languageEnglish
Pages (from-to)263-269
Number of pages7
JournalTissue Antigens
Volume63
Issue number3
DOIs
Publication statusPublished - 2004 Mar 1
Externally publishedYes

Keywords

  • Complement C4A
  • Complement C4B
  • DNA sequencing
  • Historical recombination
  • Major histocompatibility complex

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Biochemistry
  • Genetics

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