注释ID

1184519088

变量_单倍型

TPMT*1

基因

TPMT

药物名称(英)

mercaptopurine

药物名称(中)

巯基嘌呤

PMID

9711875

类型

Metabolism/PK

含义

not stated

记事

Patients who were described as having the "high methylator" TPMT activity phenotype were found to have *1/*1 + *1S/*1S + *1/*1S + *1/*1A genotypes. Note that one patient with the *1S/*2 genotype was found to be a high methylator, even though the *2 allele is known to be defective. TPMT activity measured on erythrocyte lysates using radiochemical assay: >13.5 units/ml RBC = high methylator, 5-13.7 units/ml = intermediate methylator, <5 units/ml = deficient methylator.

专家论述

TPMT *1/*1 are associated with increased enzyme activity of TPMT when assayed with mercaptopurine.

等位基因

*1/*1

专家评论

变体注释摘要

id	研究类型	特征类型
26744	cohort	Study Cohort