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Related Experiment Videos

New HLA-DR haplotypes containing the DRB6 pseudogene

M Salazar1, C B Granja, A Selvakumar

  • 1American Red Cross, New England Region, Dedham, Massachusetts, USA.

Tissue Antigens
|November 1, 1996
PubMed
Summary

Unusual HLA-DR typing results were confirmed using multiple methods, revealing novel allele combinations. These findings suggest gene conversion and homologous recombination events in HLA-DRB genes.

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Multiple transcripts of the killer cell immunoglobulin-like receptor family, KIR3DL1 (NKB1), are expressed by natural killer cells of a single individual.

Tissue antigens·1999

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Human Leukocyte Antigen (HLA) Typing

Background:

  • Human Leukocyte Antigen (HLA) typing is crucial for transplantation and disease association studies.
  • Standard HLA-DR typing using PCR-Sequence Specific Oligonucleotide Probes (PCR-SSOP) can occasionally yield unexpected results.

Purpose of the Study:

  • To investigate and confirm unusual probe reaction patterns observed during HLA-DR typing.
  • To characterize novel HLA-DRB gene combinations and elucidate their potential origins.

Main Methods:

  • PCR-Sequence Specific Oligonucleotide Probes (PCR-SSOP) for initial typing.
  • PCR-Sequence Specific Primers (PCR-SSP), cloning, and nucleotide sequencing of HLA-DRB genes for confirmation.
  • Analysis of the second exon of HLA-DRB genes.

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Main Results:

  • Two samples exhibited unexpected HLA-DR typing patterns.
  • Confirmed phenotypes revealed novel allele combinations, including DRB1*0701 with DRB5*0101 and DRB6*0201 in one sample.
  • The second sample showed a unique combination of DRB1*1602/DRB1*1302 with DRB3*0301 and DRB6*0101.

Conclusions:

  • The observed novel HLA allele combinations suggest complex genetic events.
  • A likely haplotype in sample #1 (DRB1*0701; DRB5*0101, DRB1*0602) may have arisen from gene conversion.
  • A likely haplotype in sample #2 (DRB1*1602, DRB6*0101, DQB1*0502) suggests an homologous recombination event.