Genetic diversity of the human immunoglobulin heavy chain VH region

Immunol Rev. 2002 Dec;190:53-68. doi: 10.1034/j.1600-065x.2002.19005.x.


The human immunoglobulin heavy chain VH region is one of the most complex regions in the human genome. The high level of diversity of this region has been shown by a number of studies. However, because of the limitations of the conventional experimental methods, it has been difficult to learn the extent of the diversity and the underlying mechanisms. This review describes a number of new genetic approaches developed in the authors' laboratory. By using these approaches, significant progress has been made in assigning different VH sequences to their respective loci, in learning the diversity of gene segment number and composition among the VH haplotypes, and in learning VH gene segment organization in individual haplotypes. Information obtained toward this direction could help in understanding the mechanisms underlying VH region diversity and the biological impact of the VH region diversity.

Publication types

  • Review

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 15 / genetics
  • Genetic Techniques
  • Genetic Variation
  • Haplotypes
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulin Variable Region / genetics*
  • Male
  • Polymerase Chain Reaction / methods
  • Pseudogenes
  • Spermatozoa / immunology


  • Immunoglobulin Heavy Chains
  • Immunoglobulin Variable Region