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Human diversity in killer cell inhibitory receptor genes
M Uhrberg1, N M Valiante, B P Shum
1Department of Structural Biology, Stanford University School of Medicine, California 94305, USA.
Immunity
|January 16, 1998
Summary
Killer cell immunoglobulin-like receptors (KIR) gene presence varies among individuals, while CD94:NKG2 genes are universal. KIR gene polymorphism and distinct haplotypes (Group A and B) were identified in the human population.
Area of Science:
- Immunogenetics
- Molecular immunology
Background:
- Killer cell immunoglobulin-like receptors (KIR) and CD94:NKG2 receptors are crucial for natural killer cell function.
- Understanding the genetic diversity of these receptors is essential for immune system research.
Purpose of the Study:
- To analyze the presence and expression of killer inhibitory receptor (KIR) and CD94:NKG2 genes in a human population.
- To characterize KIR gene polymorphism and identify KIR haplotypes.
Main Methods:
- Molecular typing techniques were employed to analyze genes from 68 donors.
- KIR gene presence, expression, and allelic polymorphism were assessed.
Main Results:
- CD94:NKG2 genes were found in all individuals analyzed.
- KIR gene possession varied, with most individuals expressing inhibitory KIR for HLA-B and -C ligands.
- Twenty distinct KIR phenotypes were defined, with two main KIR haplotype groups (A and B) identified at similar frequencies.
- Allelic polymorphism was detected in five KIR genes, and Group B haplotypes contained more noninhibitory KIR genes than Group A.
Conclusions:
- The KIR locus is polygenic and polymorphic within the human population.
- The variability in KIR gene possession and the distinct haplotype groups highlight the genetic diversity of the human immune system.