硫鸟嘌呤-thioguanine
注释ID
1184516685
变量_单倍型
TPMT*1, TPMT*20, TPMT*21, TPMT*22
基因
TPMT
药物名称(英)
thioguanine
药物名称(中)
硫鸟嘌呤
PMID
16917910
类型
Metabolism/PK
含义
not stated
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
专家评论
变体注释摘要
id研究类型特征类型
27055 cohort Unknown
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