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Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: Application to the study of C4 null alleles

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Abstract

Definitive restriction fragment length polymorphisms (RFLPs) representing the exact locations responsible for isotypicity between the human complement components C4A and C4B, and their generally associated major Rodgers (Rg1) and Chido (Ch1) antigenic determinants, have been designed. By means of a C4d-specific genomic probe for Southern blot analysis, a C4A gene can be defined by the presence of the 276 bp and 191 bp N 1 a IV fragments, while a C4B gene can be defined by a single 467 bp N1aIV fragment. In addition, an Rgl-expressing C4 gene can be represented by a 565 bp EcoO 109 fragment, and a Chl-expressing C4 gene by a 458 by EcoO 109 fragment, under the same conditions. All these polymorphic restriction fragments can be unambiguously and conveniently detected. In combination with the Taq I polymorphic patterns specific for the C4 loci and for the neighboring 21-hydroxylase genes, the nature and structure of the tandem C4,21-hydroxylase gene complex can be elucidated. In this study, it is inferred that the null allele of the HLA haplotype B44 DR6 C4A3 C4BQO is not a C4B allele, but probably encodes another C4A 3 allotype at the second C4 locus.

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Abbreviations

C4 :

(long)

C4 :

gene of 22 kb, with a 6–7 kb intron

C4 :

(short)

C4 :

gene of 16 kb, without a 6–7 kb intron; complotype SCO1, factor B S, C2 C, C4A QO; C4B 1

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Dedicated to the memory of our teacher, the late Professor Rodney Porter C. H. F. R. S.

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Yung Yu, C., Duncan Campbell, R. Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: Application to the study of C4 null alleles. Immunogenetics 25, 383–390 (1987). https://doi.org/10.1007/BF00396104

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  • DOI: https://doi.org/10.1007/BF00396104

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