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Iranian Journal of Pathology، جلد ۱۵، شماره ۴، صفحات ۲۹۹-۳۰۵
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عنوان انگلیسی Thiopurine S-methyltransferase and Pemphigus Vulgaris: A Phenotype-Genotype Study
چکیده انگلیسی مقاله Background & Objective:  Thiopurine drugs are considered as a treatment modality in various autoimmune disorders including pemphigus vulgaris (PV). These drugs are metabolized by an enzyme “Thiopurine S-methyl transferase” (TPMT). Various variants of this enzyme may have decreased activity leading to serious drug side effects. To investigate the phenotype and genotype of TPMT in PV patients receiving thiopurine drugs.
Methods:  50 patients (29 women and 21 men) with pemphigus vulgaris treating with standard dose of Thiopurine drugs were selected. Sex, age, result of liver function test and complete blood count were recorded. Genotyping of two common non-functional allele (TPMT*2 and TPMT*3C) by Allele-specific and RFLP-PCR was performed. TPMT enzymatic level was determined by an ELISA based method.
Results:  Of patients, 36 (72%) were found to have normal TPMT level; and 12, (24%) had higher level of enzyme and 2, 4% had low TPMT enzyme, but none of the patients showed mutant TPMT*2 and TPMT*3C alleles. None of the patients showed hepatotoxicity and bone marrow suppression.
Conclusion:  The phenotypic assay based on ELISA method may have false positive and misleading results but genotyping using PCR-RFLP and allele specific PCR is accurate, simple and cost-effective and can be used in patients decided to undergo thiopurine treatment.
کلیدواژه‌های انگلیسی مقاله Allele specific PCR,PCR-RFLP,Thiopurine S- methyl transferase,Thiopurine drugs,ELISA test
نویسندگان مقاله Maral Mokhtari |
Pathology Department, Shahid Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran

Farzaneh Mostanbet |
Pathology Department, Shahid Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran

Saideh Nekooee Fard |
Pathology Department, Shahid Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran

Golsa Shekarkhar |
Pathology Department, Shahid Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran

Mozhdeh Sepaskhah |
Dermatology Department, Shahid Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran

Maryam Sadat Sadati |
Dermatology Department, Shahid Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran

نشانی اینترنتی https://ijp.iranpath.org/article_43602_a1b48f225df1e1fa9f755c885065579f.pdf
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