Molecular Diagnosis of Thiopurine S-Methyltransferase Deficiency

Abstract

Letters1 December 1997Molecular Diagnosis of Thiopurine S-Methyltransferase DeficiencyEugene Y. Krynetski, PhD and William E. Evans, PharmDEugene Y. Krynetski, PhDSt. Jude Children's Research Hospital; Memphis, TN 38101Search for more papers by this author and William E. Evans, PharmDSt. Jude Children's Research Hospital; Memphis, TN 38101Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-127-11-199712010-00027 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail IN RESPONSE:We are pleased by Dr. Blank's interest in our paper and offer the following in response to points raised in his letter. We have previously shown that the G238C transversion alone is associated with a 100-fold reduction in TPM catalytic activity in a heterologous expression system [1] and that this is the only mutation in some patients with TPM deficiency [1]. Likewise, we have shown that the G460A and the A719G mutations are the only mutations in the TPM complementary DNA (cDNA) of other patients with TPM deficiency, and that the cDNA with only these mutations has more ...