Analysis of GNAS mutations in DNA isolated from peripheral blood

Download scientific diagram | Analysis of GNAS mutations in DNA isolated from peripheral blood leukocytes. Nucleotide sequence analysis of the region encompassing the arginine 201 (Arg 201 ) codon is presented for three subjects with McCune-Albright syndrome. Polymerase chain reaction performed in the absence of PNA revealed only alleles containing wild-type sequence (CGT). In contrast, when polymerase chain reaction was performed in the presence of PNA, only alleles containing GNAS mutations were amplified. Three different mutations were detected with equivalent sensitivity: CGT→CAT/arginine→histidine (arg→his), CGT→CTT/ arginine→leucine (arg→leu), and CGT→TGT/arginine→cysteine (arg→cys). from publication: A Highly Sensitive Polymerase Chain Reaction Method Detects Activating Mutations of the GNAS Gene in Peripheral Blood Cells in McCune-Albright Syndrome or Isolated Fibrous Dysplasia | The somatic nature of mutations in the GNAS gene in McCune-Albright syndrome and isolated fibrous dysplasia makes their identification difficult. Conventional methods for the detection of mosaic mutations of GNAS have required polymerase chain reaction analysis of genomic DNA | Blood Cells, Gain of Function Mutation and Peripheral Blood | ResearchGate, the professional network for scientists.

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