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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
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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

Pauline Romanet, Pascal Philibert, Frederic Fina, Thomas Cuny, Catherine Roche, L'Houcine Ouafik, Françoise Paris, Rachel Reynaud et Anne Barlier
The Journal of pediatrics
11/2018

Résumé

Biochemistry, Molecular Biology Endocrinology and metabolism Genetics Human genetics Human health and pathology Life Sciences Molecular biology Pediatrics
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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