当前位置：药药网 / 数据中心 /变体注释摘要_体外和功能分析类型
巯基嘌呤-mercaptopurine
记事
A female patient, her mother and her sister were all found to have very low/almost undetectable TPMT activity (0.7 U/ml pRBC, 0.8 U/ml pRBC and 0.5 U/ml pRBC, respectively). When genotyped, all patients were found to have the *3A/*23 genotype. TPMT activity measured using the radiochemical method, expressed as units TPMT per ml of packed red blood cells per hour of incubation. The cutoff between low and intermediate TPMT activity was 2.5 U/ml pRBC. The *23 allele was predicted to be deleterious using the predictive tool SIFT, possibly resulting in defective enzyme function.
专家论述
TPMT *3A/*23 is associated with decreased enzyme activity of TPMT when assayed with mercaptopurine.