Polymorphisms in human H chain V region genes from the V(H)III gene family

Polymorphisms of the Ig H chain V region (V(H)) genes were examined with probes from the coding and flanking regions of a gene from the largest V(H) gene family, V(H)III. The 5'-flanking probe gave the simplest pattern and revealed the largest number of polymorphic fragments. Analysis of unrelated individuals and of families identified five polymorphic loci. Two alleles were detected for each of two of the loci, whereas a polymorphic band was scored as present or absent for the other three loci. The polymorphic fragments segregated in the expected Mendelian fashion and parental haplotypes could be assigned in all cases. Comparison of the patterns obtained with the flanking and coding region probes suggests that the human V(H)III gene family is highly polymorphic and may contain several hundred V genes. This method, as well as the polymorphisms detected, can be used to investigate the organization and germ-line variation of H chain V genes and their inheritance in normal individuals and in individuals with immunologic disorders.