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The study of a French family with two duplicated C4A haplotypes

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The finding of two duplicated C4A haplotypes in a normal French family led to a detailed study of their C4 polymorphism. The father had an extremely rare A*6A*11, B* QO haplotype inherited by all of his children and the mother had the more common A*3A*2, B*QO haplotype. Two HLA identical daughters only have four C4A alleles. The father's A11 allotype expresses Ch: 1 (Chido) rather than Rg:1 (Rodgers) and represents a new Ch phenotype Ch: 1,-2,-3,-4,-5,-6. In order to clarify the genetic background in this unusual family, DNA studies of restriction fragment length polymorphisms (RFLPs) were undertake. The father's rare haplotype, which expresses two C4A allotypes, results from a long and a short C4 gene normally associated with the A*6, B*1 that also exhibits the BglII RFLP. As it travels in an extended MHC haplotype HLA A2, B57 (17), C2*C, BF*S, DR7 that is most frequently associated with A*6, B*1, we postulate that the short C4B has been converted in the α chain region to a C4A gene which produces a C4A protein. This report of a short C4A gene is the first example in the complex polymorphism of C4.

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Correspondence to Carolyn M. Giles.

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Giles, C.M., Uring-Lambert, B., Boksch, W. et al. The study of a French family with two duplicated C4A haplotypes. Hum Genet 77, 359–365 (1987). https://doi.org/10.1007/BF00291427

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  • Length Polymorphism
  • Restriction Fragment Length Polymorphism
  • Restriction Fragment
  • Fragment Length Polymorphism
  • Rare Haplotype