注释ID

1184547567

变量_单倍型

TPMT*3A, TPMT*3C

基因

TPMT

药物名称(英)

mercaptopurine

药物名称(中)

巯基嘌呤

PMID

16207256

类型

Metabolism/PK

含义

not stated

记事

The authors found that TPMT activity phenotype correlated well with *3/*3, *1/*3 and *1/*1 genotypes (it was not specified whether patients were *3A or *3C, though these were the alleles that were tested for). Those with the *3/*3 genotype were TPMT-deficient, those with the *1/*3 genotype tended to have intermediate TPMT activity, and those with the *1/*1 genotype tended to have normal TPMT activity.

专家论述

TPMT *3A + *3C is associated with enzyme activity of TPMT when assayed with mercaptopurine.

等位基因

*3A + *3C

专家评论

变体注释摘要

id	研究类型	特征类型
26734	cohort	Unknown