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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- Record sourced from PubMed, PMID 30442414.
- Also identified by DOI 10.1016/j.jpeds.2018.09.070.
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Abstract
The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase chain reaction detects GNAS mutations in 7 of 12 patients (58.3%) suspected to have fibrous dysplasia/MAS from whole blood DNA, and in 4 of 5 patients (80%) from circulating cell-free DNA.
Medical subject headings
- Cell-Free Nucleic Acids
- Chromogranins
- DNA
- Fibrous Dysplasia, Polyostotic
- GTP-Binding Protein alpha Subunits, Gs
- Mutation
- Polymerase Chain Reaction