注释ID

1184134177

变量_单倍型

TPMT*1, TPMT*2, TPMT*3A, TPMT*3C

基因

TPMT

药物名称(英)

mercaptopurine

药物名称(中)

巯基嘌呤

PMID

11372592

类型

Metabolism/PK

含义

not stated

记事

There were 3 *1/*1 subjects whose assays showed decreased TPMT activity which overlapped the high end of the range of the heterozygous subjects (heterozygote range = 0.21 pmol/min/mg - 0.30 pmol/min/mg). The rest of the *1/*1 subjects had activity levels between 0.31 pmol/min/mg and 0.80 pmol/min/mg. Assays were done for TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C. There were 8 *1/*3A, 2 *1/*3C and 1 *1/*2.

专家论述

TPMT *1/*2 + *1/*3A + *1/*3C is associated with decreased activity of TPMT when assayed with mercaptopurine in erythrocyte lysates as compared to TPMT *1/*1.

等位基因

*1/*2 + *1/*3A + *1/*3C

专家评论

变体注释摘要

id	研究类型	特征类型
26780	cohort	Study Cohort