Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome
Résumé
The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet PCR™ detects GNAS mutations in 7/12 (58.3%) FD/MAS-suspected patients from whole blood DNA, and in 4/5 patients (80%) from circulating cell-free DNA.
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