The GNAS1 gene in myelodysplastic syndromes (MDS)

作者：Di Giacomo Danika; Fernandez Anair Graciela Lema; Pierini Tiziana; Crescenzi Barbara; Brandimarte Lucia; Matteucci Caterina; Testoni Nicoletta; Mecucci Cristina^*

来源：Leukemia Research, 2014, 38(7): 804-807.

DOI：10.1016/j.leukres.2014.03.017

• MDS
• del(20q)/20q-
• GNAS1
• Haplo-insufficiency

GNAS1 gene is located at the long arm of chromosome 20 (q13.32). GNAS1 gene deletion has never been investigated in MDS.A GNAS1 activating mutation (R201) was recently found in MDS. We applied FISH and DHPLC plus sequencing to investigate GNAS1 gene in MDS cases with and without del(20q) at karyotype.

• 出版日期2014-7
• 单位Perugia