Investigating the Link Between Trisomy 21 and Acquired Mutations in the GATA1 Gene

Triya Chakravorty; Irene Roberts

doi:10.38192/1.6.1.c9

Vol. 6 No. 1 (2020), Conference Abstracts

Vol. 6 No. 1 (2020)

Investigating the Link Between Trisomy 21 and Acquired Mutations in the GATA1 Gene

Conference Abstracts

https://doi.org/10.38192/1.6.1.c9

Published 2019-11-27

Triya Chakravorty⁺⁻
Professor Irene Roberts⁺⁻

Triya Chakravorty

University of Oxford, MRC Weatherall Institute of Molecular Medicine, Oxford, UK

Professor Irene Roberts

University of Oxford, MRC Weatherall Institute of Molecular Medicine, Oxford, UK

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Keywords

Down's syndrome
Trisomy 21
GATA1

How to Cite

Chakravorty, T., & Roberts, I. (2019). Investigating the Link Between Trisomy 21 and Acquired Mutations in the GATA1 Gene . The Physician, 6(1), c9. https://doi.org/10.38192/1.6.1.c9

Abstract

Children with Down syndrome (DS) due to trisomy 21 (T21) are at an increased risk of developing the neonatal preleukaemic disorder transient abnormal myelopoiesis (TAM), which may transform into childhood acute myeloid leukaemia (ML-DS). Leukaemic cells in TAM and ML-DS have acquired mutations in the GATA1 gene. Although it is clear that acquired mutations in GATA1 are necessary for the development of TAM and ML-DS, questions remain concerning the mechanisms of disease.

https://doi.org/10.38192/1.6.1.c9

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