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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.
Objective:
Carbonic anhydrase inhibitors (CAIs) are intraocular pressure-reducing medications used in ophthalmology. Human leukocyte antigen-B*59:01 (HLA-B*59:01) is strongly associated with CAI-induced severe cutaneous adverse reactions (SCARs). This study aimed to develop and validate a rapid and economical screening method for HLA-B*59:01 to prevent carbonic anhydrase inhibitor-induced SCARs.
Methods:
Duplex allele-specific polymerase chain reaction (PCR) with an internal control was performed for HLA-B*59:01 genotyping. The accuracy of duplex allele-specific PCR for HLA-B*59:01 genotyping was evaluated in 200 blood samples, using sequence-based typing (SBT) as the reference method.
Results:
In total, 50 HLA-B*59:01-positive and 150 HLA-B*59:01-negative results obtained using duplex allele-specific PCR were in complete agreement with the SBT results.
Conclusion:
Duplex allele-specific PCR is a rapid, reliable, and economical assay for screening the HLA-B*59:01 allele.
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