Rapid and Reliable HLA-B*59:01 Genotyping to Prevent Carbonic Anhydrase Inhibitor-Induced Severe Cutaneous Adverse

Ji Young Huh1, Yong Ju Song2, Geon Park3

  • 1Department of Laboratory Medicine, CHA Bundang Medical Center, Gyeonggi-do, Korea.

Insights

A new duplex allele-specific PCR method accurately screens for the HLA-B*59:01 allele. This rapid and economical test can help prevent severe cutaneous adverse reactions from carbonic anhydrase inhibitors.

Area of Science:

  • Pharmacogenomics
  • Immunogenetics
  • Ophthalmology

Background:

  • Carbonic anhydrase inhibitors (CAIs) reduce intraocular pressure but can cause severe cutaneous adverse reactions (SCARs).
  • The human leukocyte antigen-B*59:01 (HLA-B*59:01) allele is strongly associated with CAI-induced SCARs.

Purpose of the Study:

  • To develop and validate a rapid, economical screening method for the HLA-B*59:01 allele.
  • To prevent SCARs associated with carbonic anhydrase inhibitor use.

Main Methods:

  • Duplex allele-specific polymerase chain reaction (PCR) with an internal control was used for HLA-B*59:01 genotyping.
  • The accuracy of the duplex allele-specific PCR method was validated against sequence-based typing (SBT) in 200 blood samples.

Main Results:

  • The duplex allele-specific PCR method achieved complete agreement with SBT results.
  • 50 HLA-B*59:01-positive and 150 HLA-B*59:01-negative results were correctly identified.

Conclusions:

  • Duplex allele-specific PCR is a rapid, reliable, and economical assay for screening the HLA-B*59:01 allele.
  • This screening method can aid in preventing carbonic anhydrase inhibitor-induced SCARs.
Abstract

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