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巯基嘌呤-mercaptopurine
记事
In European participants, 1 of 21 cases selected because they had intermediate TPMT activity (5-10.1 U/ml pRBC) were found to carry *3C, presumably as heterozygotes. Typing was done for *2,*3A,*3B and *3C. None of the 21 controls (TPMT activity > 10.1 U/ml pRBC) had these non-*1 alleles. In African American participants, 2 of 23 cases selected because they had intermediate TPMT activity (5-10.1 U/ml pRBC) were found to carry *3C, presumably as heterozygotes. Typing was done for *2,*3A,*3B and *3C. Sequencing was performed for the ORF and for the intron/exon splice sites on the 2 subjects who had low activity but had none of the above alleles. A new allele, *8 was discovered in one; the other one had no detectable mutation. None of the 23 controls (TPMT activity > 10.1 U/ml pRBC) had these non-*1 alleles.
专家论述
TPMT *3C is associated with decreased activity of TPMT when assayed with mercaptopurine in red blood cells as compared to TPMT *1/*1.