注释ID

1184516520

变量_单倍型

TPMT*1, TPMT*3A, TPMT*11

基因

TPMT

药物名称(英)

thioguanine

药物名称(中)

硫鸟嘌呤

PMID

12835738

类型

Metabolism/PK

含义

not stated

记事

A 5 year old boy with acute lymphoblastic leukemia was tested for TPMT phenotype in RBC using an HPLC method. He showed TPMT deficiency with an enzyme activity of 2 units. Sequencing found that he had the *3A/*11 genotype, with the *11 found to be a novel allele. Both his parents were found to have intermediate TPMT activity (mother 20 units, father 22 units), with the genotypes *1/*11 for the father and *1/*3A for the mother.

专家论述

TPMT *3A/*11 + *1/*11 + *1/*3A is associated with decreased enzyme activity of TPMT when assayed with thioguanine.

等位基因

*3A/*11 + *1/*11 + *1/*3A

专家评论

Pediatric

变体注释摘要

id	研究类型	特征类型
27077	cohort	Unknown