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1976•European Journal of ImmunologyRequires access

Mapping of the HLA locus controlling C2 structural variants and linkage disequilibrium between alleles C22 and Bw15

T Meo, Marietta Bernoc, D Bernoco, R Ceppellini, John P. Atkinson

Open publisher page 51 citations

Abstract

Abstract The newly discovered polymorphism of human C2 protein analyzed by isoelectric focusing is controlled by a locus closely linked to HLA. An informative cross‐over family (HLA: A×C) indicates that this locus maps on the C side of the region. Population and family studies have shown that the C22 variant is significantly associated on the haplotype with alleles Bw15 and Cw3. The fact that the “deficient” C2 mutant is in linkage disequilibrium with other HLA antigens, suggests that C22 and C20, here tentatively considered alleles of the same locus, are not directly related by descent.

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What this paper is about

Abstract The newly discovered polymorphism of human C2 protein analyzed by isoelectric focusing is controlled by a locus closely linked to HLA. An informative cross‐over family (HLA: A×C) indicates that this locus maps on the C side of the region. Population and family studies have shown that the C22 variant is significantly associated on the haplotype with alleles Bw15 and Cw3. The fact that the “deficient” C2 mutant is in linkage disequilibrium with other HLA antigens, suggests that C22 and C20, here tentatively considered alleles of the same locus, are not directly related by descent.

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Available abstract

Abstract The newly discovered polymorphism of human C2 protein analyzed by isoelectric focusing is controlled by a locus closely linked to HLA. An informative cross‐over family (HLA: A×C) indicates that this locus maps on the C side of the region. Population and family studies have shown that the C22 variant is significantly associated on the haplotype with alleles Bw15 and Cw3. The fact that the “deficient” C2 mutant is in linkage disequilibrium with other HLA antigens, suggests that C22 and C20, here tentatively considered alleles of the same locus, are not directly related by descent.

Key concepts: Locus (genetics), Linkage disequilibrium, Biology, Genetics, Allele, Isoelectric focusing, Human leukocyte antigen, Haplotype

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Mapping of the HLA locus controlling C2 structural variants and linkage disequilibrium between alleles C22 and Bw15 — Research Paper | ScholarLens