注释ID

1184173813

变量_单倍型

TPMT*1, TPMT*3A, TPMT*3B, TPMT*3C

基因

TPMT

药物名称(英)

mercaptopurine

药物名称(中)

巯基嘌呤

PMID

19891552

类型

Metabolism/PK

含义

yes

记事

Genotype assays were performed for *2,*3A,*3B,and *3C. Most of the heterozygotes were *1/*3A. There was a concordance rate of 71.6% between genotype and phenotype;11/51 heterozygotes had normal activity, and 265/891 "*1/*1" subjects had intermediate TPMT activity. There was one *3B/*3C subject, whose assay showed very low TPMT activity (1.6 U/gHb). *1/*1 subjects had assay results ranging from 8.3-75.2 U/gHb. Heterozygous subjects had activity ranging from 10.6-24.4 U/gHb. Authors stated that the statistical results were adjusted for multiple hypothesis testing. They observed a 4-group distribution of TPMT activity phenotypes. *1/*1 infants (0.08-5 yrs) showed 9% avg. higher TPMT activity than did other *1/*1 groups.

专家论述

TPMT *1/*3A + *1/*3B + *1/*3C is associated with decreased enzyme activity of TPMT when assayed with mercaptopurine in erythrocyte lysates as compared to TPMT *1/*1.

等位基因

*1/*3A + *1/*3B + *1/*3C

专家评论

变体注释摘要

id	研究类型	特征类型
27049	cohort	Study Cohort