Haplotypes of the human immunoglobulin lambda IGLV7S1 and IGLV1S1 genes defined by restriction-site polymorphism and insertion/deletion of a 6-kb DNA fragment

Am J Hum Genet. 1993 Aug;53(2):518-25.

Abstract

Haplotypes were defined in the human immunoglobulin lambda locus by using three probes--V lambda VII, V lambda A, and V lambda I--hybridized to BamHI, KpnI, EcoRI, and HindIII digests. Four KpnI alleles were described. Two of them, 13 kb and 16 kb, detected with both the V lambda VII and V lambda A probes, were correlated with 4.6-kb and 10.5-kb KpnI fragments, respectively, which hybridize to the V lambda I probe. The two others (17 kb and 24 kb) were detected with the three probes V lambda VII, V lambda A, and V lambda I. Moreover, we show that two of those haplotypes may reflect an insertion of 6 kb between V lambda A and V lambda 1S1. Familial studies were performed to demonstrate the Mendelian inheritance. Our results demonstrate the absence of association between the C lambda alleles and V lambda haplotypes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibody Diversity
  • Cloning, Molecular
  • DNA Probes
  • Gene Frequency
  • Genes, Immunoglobulin*
  • Genome, Human
  • Haplotypes*
  • Humans
  • Immunoglobulin Variable Region / genetics*
  • Immunoglobulin lambda-Chains / genetics*
  • Male
  • Mutagenesis, Insertional
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • Pseudogenes
  • Sequence Deletion

Substances

  • DNA Probes
  • Immunoglobulin Variable Region
  • Immunoglobulin lambda-Chains