The GNAS1 gene in myelodysplastic syndromes (MDS)

Abstract 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) a...

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Published inLeukemia research Vol. 38; no. 7; pp. 804 - 807
Main Authors Di Giacomo, Danika, Lema Fernandez, Anair Graciela, Pierini, Tiziana, Crescenzi, Barbara, Brandimarte, Lucia, Matteucci, Caterina, Testoni, Nicoletta, Mecucci, Cristina
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.07.2014
Subjects
Aged
Chromogranins
Chromosomes, Human, Pair 20
del(20q)/20q
Female
Gene Deletion
GNAS1
GTP-Binding Protein alpha Subunits, Gs - genetics
Haplo-insufficiency
Hematology, Oncology and Palliative Medicine
Humans
In Situ Hybridization, Fluorescence
Male
MDS
Mutation
Myelodysplastic Syndromes - genetics
Haplo-insufficiency
del(20q)/20q
GNAS1
MDS
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Summary:Abstract 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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0145-2126
1873-5835
DOI:10.1016/j.leukres.2014.03.017