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Related Experiment Videos

Polymorphism and utilization of human VH Genes

E C Milner1, W O Hufnagle, A M Glas

  • 1Virginia Mason Research Center, University of Washington, Seattle 98101, USA.

Annals of the New York Academy of Sciences
|September 29, 1995
PubMed
Summary

The human VH germline repertoire has about 100 elements in seven families. Gene number variations due to polymorphisms significantly impact VH gene utilization in the population.

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Area of Science:

  • Immunogenetics
  • Molecular Biology

Background:

  • The human immunoglobulin heavy chain variable (VH) germline repertoire is crucial for adaptive immunity.
  • Understanding the genetic diversity and variation within this repertoire is essential for explaining immune responses.

Purpose of the Study:

  • To characterize the structural organization and variation within the human VH germline repertoire.
  • To investigate the impact of genetic polymorphisms on VH gene composition and utilization.

Main Methods:

  • Analysis of nucleotide sequence similarity to group VH elements into families.
  • Assessment of allelic variation and linkage disequilibrium across VH loci.
  • Identification and characterization of insertion/deletion polymorphisms affecting gene copy number.

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Main Results:

  • The human VH repertoire consists of approximately 100 elements organized into seven families.
  • Limited allelic diversity and weak linkage disequilibrium were observed for most loci.
  • Common insertion/deletion polymorphisms lead to significant variation in VH gene copy number per haplotype.
  • These polymorphisms can involve duplication or deletion of functional VH gene segments.

Conclusions:

  • Variation in germline VH gene composition, driven by polymorphisms, profoundly influences VH gene utilization.
  • The identified genetic variations contribute to the diversity of the human antibody repertoire.
  • Further research into VH locus variation can inform understanding of immune system function and disease susceptibility.