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快速可靠的基因分型以预防碳酸酐酶抑制剂诱导的严重皮肤不良反应。

Rapid and Reliable Genotyping to Prevent Carbonic Anhydrase Inhibitor-Induced Severe Cutaneous Adverse Reactions.

机构信息

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

Happyeye21 Hospital, Gwangju, Korea.

出版信息

Ann Clin Lab Sci. 2024 Jan;54(1):101-105.

PMID:38514059
Abstract

OBJECTIVE

Carbonic anhydrase inhibitors (CAIs) are intraocular pressure-reducing medications used in ophthalmology. Human leukocyte antigen- () 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 to prevent carbonic anhydrase inhibitor-induced SCARs.

METHODS

Duplex allele-specific polymerase chain reaction (PCR) with an internal control was performed for genotyping. The accuracy of duplex allele-specific PCR for genotyping was evaluated in 200 blood samples, using sequence-based typing (SBT) as the reference method.

RESULTS

In total, 50 -positive and 150 -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 allele.

摘要

目的

碳酸酐酶抑制剂(CAI)是眼科中用于降低眼内压的药物。人类白细胞抗原(HLA)与 CAI 诱导的严重皮肤不良反应(SCAR)密切相关。本研究旨在开发和验证一种快速、经济的筛查方法,以预防 CAI 诱导的 SCAR。

方法

采用双等位基因特异性聚合酶链反应(PCR)结合内对照进行 HLA 基因分型。以测序基因为参考方法,评价双等位基因特异性 PCR 用于 HLA 基因分型的准确性。

结果

共检测 200 份血样,用双等位基因特异性 PCR 检测 HLA 50 阳性和 150 例阴性的结果与测序结果完全一致。

结论

双等位基因特异性 PCR 是一种快速、可靠、经济的 HLA 等位基因筛查方法。

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