AI Article Synopsis

  • GNAS1 gene is found on the long arm of chromosome 20 and its deletion has not previously been studied in myelodysplastic syndromes (MDS).
  • A specific activating mutation (R201) in the GNAS1 gene was recently identified in MDS cases.
  • Researchers used techniques like FISH and DHPLC sequencing to analyze the GNAS1 gene in MDS cases, comparing those with and without the deletion of 20q in their karyotype.

Article 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.

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http://dx.doi.org/10.1016/j.leukres.2014.03.017DOI Listing

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