Abstract
The human kappa light chain consists of approximately 35 potentially functionalIGKV genes. However, an estimation of the diversity in theIGKV repertoire of an individual will be affected by the extent of polymorphisms for the differentIGKV genes and their patterns of inheritance. To date, little information is available to indicate the extent of allelic variation of theIGKV genes. We examined the extent of allelism for oneIGKV gene pair, the distal regionA2 gene and its closely related proximal region duplicateA18. We found two new alleles forA2 and one new allele forA18, and sequenced ∼ 1 kilobase flanking each gene. The newA18 allele, unlike the originally described allele, appears to be functional. All these alleles were found at relatively high frequencies in the four ethnic populations studied, with the exception of the defectiveA2b allele which was highly represented only in Navajos. The originally describedA2a allele encodes for the predominant protective antibody againstHaemophilus influenzae. Therefore, the patterns of allelic inheritance described for thisIGKV gene pair indicate that allelism in theIGKV locus is likely to have a significant impact on immune responses.
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Atkinaon, M.J., Cowan, M.J. & Feeney, A.J. New alleles ofIGKV genesA2 andA18 suggest significant humanIGKV locus polymorphism. Immunogenetics 44, 115–120 (1996). https://doi.org/10.1007/BF02660059
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DOI: https://doi.org/10.1007/BF02660059