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硫鸟嘌呤-thioguanine
变量_单倍型
TPMT*1, TPMT*20, TPMT*21, TPMT*22
记事
Three individuals were discovered to have intermediate TPMT activity. Patients were taking thioguanine or azathioprine for various conditions. TPMT activity measured in RBC using HPLC. Intermediate TPMT activity defined as >2 and <= 22 nmol 6-MTG x Hb/g x 1/h. One patient was found to be heterozygous for *1/*20, another for *1/*21 and the last for *1/*22. *21 and *22 were novel alleles in this study. Note that the patients with the *1/*20 had a borderline intermediate activity phenotype (22 nmol 6-MTG...etc.). The authors noted that based on analyses, these three variants may affect TPMT protein function.
专家论述
TPMT *1/*20 + *1/*21 + *1/*22 are associated with decreased enzyme activity of TPMT when assayed with thioguanine.
等位基因
*1/*20 + *1/*21 + *1/*22