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Heterogeneity of human C4 gene size

A large intron (6.5 kb) is present in all C4A genes and some C4B genes

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Abstract

In this article we present a study showing that the human C4 genes differ in length because of the presence or absence of a 6.5 kb intron near the 5′ end of the gene. DNA from individuals of known HLA, factor B, and C4 haplotypes was analyzed for restriction fragment length polymorphism (RFLP) by Southern blot analysis with C4-specific cDNA probes. The RFLP patterns obtained showed that the C4 genes are either 22.5 kb or 16 kb in length. They are referred to as long and short C4 genes, respectively. A population study was carried out to examine the distribution of the gene size according to C4 allotypes and haplotypes. Long C4 genes included all C4A genes studied and also some C4B allotypes, e. g., B1 on most C4 A3B1 haplotypes. Similarly, C4B null genes were found to be of the long form. Other C4B allotypes tested were found to be coded for by short C4 genes, including B2, B1 in C4 A6B1 and C4 AQOB1 (with a single C4B gene haplotype).

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Abbreviations

C4:

fourth component of complement

C2:

second component of complement

BF:

factor B

MHC:

major histocompatibility complex

RFLP:

restriction fragment length polymorphism

EDTA:

ethylenediaminetetraacetic acid

SDS:

lauryl sulfate, sodium salt

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Author notes

  1. A. Palsdottir

    Present address: Genetics Division, The Blood Bank, Landspitalinn, 101, Reykjavik, Iceland

Authors and Affiliations

  1. MRC Immunochemistry Unit, Department of Biochemistry, University of Oxford, South Parks Road, OX1 3QU, Oxford, England

    A. Palsdottir

  2. Genetics Division, The Blood Bank, Landspitalinn, 101, Reykjavik, Iceland

    R. Fossdal, A. Arnason & O. Jensson

  3. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, OX1 3QU, Oxford, England

    J. H. Edwards

Authors
  1. A. Palsdottir
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  2. R. Fossdal
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  3. A. Arnason
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  4. J. H. Edwards
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  5. O. Jensson
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Palsdottir, A., Fossdal, R., Arnason, A. et al. Heterogeneity of human C4 gene size. Immunogenetics 25, 299–304 (1987). https://doi.org/10.1007/BF00404422

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  • DOI: https://doi.org/10.1007/BF00404422

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