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AML1 by Takeshi Taketani; Tomohiko Taki; Junko Takita; Masahiro Tsuchida; Ryoji Hanada; Teruaki Hongo; Takashi Kaneko; Atsushi Manabe; Kohmei Ida; Yasuhide Hayashi is a Medicine article available to read on EtoBox.

What is AML1 about?

## Abstract __AML1__/__RUNX1__, located on chromosome band 21q22, is one of the most important hematopoietic transcription factors. __AML1__ is frequently affected in leukemia and myelodysplastic syndrome with 21q22 translocations. Recently, __AML1__ mutations were found in adult hematologic malignancies, especially acute myeloid leukemia (AML)–M0 or leukemia with acquired trisomy 21, and familial platelet disorder with a predisposition toward AML. Through the use of polymerase chain reaction–single‐strand conformation polymorphism analysis, we examined the __AML1__ gene for mutations in 241 patients with pediatric hematologic malignancies, and we detected __AML1__ mutations in seven patients (2.9%). Deletion was found in one patient, and point mutations in four patients, including three missense mutations, two silent mutations, and one mutation within an intron resulting in an abnormal splice acceptor site. All of the mutations except for one were heterozygous. Mutations within the runt domain were found in six of seven patients. Six of seven patients with __AML1__ mutations were diagnosed with AML, and one had acute lymphoblastic leukemia. In three of these seven patients, AML ev

Who reads AML1?

Author

Takeshi Taketani; Tomohiko Taki; Junko Takita; Masahiro Tsuchida; Ryoji Hanada; Teruaki Hongo; Takashi Kaneko; Atsushi Manabe; Kohmei Ida; Yasuhide Hayashi

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)

Published

2003

Language

EN

Field

Medicine (Life Sciences)