注释ID

1184516536

变量_单倍型

TPMT*1, TPMT*3A, TPMT*14, TPMT*15

基因

TPMT

药物名称(英)

mercaptopurine

药物名称(中)

巯基嘌呤

PMID

15083071

类型

Metabolism/PK

含义

not stated

记事

Two trios were analyzed - a daughter from one and a son from the other were found to be TPMT deficient (daughter 0.3 units/ml pRBC; son 0.4 units/ml pRBC). The daughter had the *3A/*14 genotype and the son had the *3A/*15 genotype. The parents were also analyzed, and found to have intermediate TPMT activity; they had the *1/*3A and *1/*14 genotypes (daughter's parents) and the *1/*3A and *1/*15 genotypes (son's parents). Low TPMT activity = <5 units/ml pRBC; intermediate = 5-9; high = >9.

专家论述

TPMT *1/*14 + *3A/*14 + *1/*3A + *1/*15 + *3A/*15 are associated with decreased enzyme activity of TPMT when assayed with mercaptopurine.

等位基因

*1/*14 + *3A/*14 + *1/*3A + *1/*15 + *3A/*15

专家评论

变体注释摘要

id	研究类型	特征类型
26724	cohort	Unknown