GNAS-COLD-MAMAPCR real time
Quantification assay of GNAS mutations cod. BM-004
Principle of the test: Quantify low frequencies of GNAS mutations
Technology: COLD-MAMA-PCR
Gene Target: GNAS
Specimen: DNA
Limit of detection: 0.625%
Dynamic Range of quantification: 2.5% < x < 40%
Controls included: Yes
Reporting Units: % mutant alleles
Number of tests: 25 tests BM-004
Kit storage: -20°C
Necessary equipment: CFX96 Detection System, 7500 Real Time PCR System or other major Real-Time PCR platforms
Status: Ready to use
Contacts:
cell: +39 329 0364389
e-Mail: info@biomole.it
biomole@ALL RIGHT RESERVED 2019
GNAS-COLD-MAMAPCR real time cod. BM-004
Quantification assay of GNAS mutations
GNAS-COLD-MAMAPCR real time BM-004 is a Research Use Only (RUO) assay that can detect R201H and R201C mutations in the GNAS gene. The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism.
We developed a novel real-time COLD-MAMA-PCR TaqMan-based method that can quantify low frequencies of GNAS mutations. A linear correlation between the true and the measured relative frequency of mutations (real-time COLD-MAMA-PCR-measured relative mutation frequency [RMF], defined as the proportion of sequence reads containing the mutation) was observed until 2.5%, indicating a reliable quantification with R201H and R201C (R2 = 0.984 and 0.987, respectively).
Reference
1. de Sanctis L, Galliano I, Montanari P, Matarazzo P, Tessaris D, Bergallo M. Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome. Horm Res Paediatr. 2017;87(5):342-349. doi: 10.1159/000463384.