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