- PRODUCT DESCRIPTION
+ Congenital deafness is inherently an autosomal recessive disease. 98% of the mutations that cause this disease occur in the Connexin 26 gene (GJB2).
+ Kit can detect ten mutations on this gene; 35DelG, 167delT, M34T, L90P, R184P (G>C), V37I, IVS 1+1 G>A, W24X, 312Del and E47X.
- PRINCIPLE OF THE SYSTEM
+ During the PCR reaction, the DNA polymerase cleaves the probe at the 5’ end
+ Separates the reporter dye from the quencer dye only when the probe hybridizes perfectly to the target DNA.
+ This cleavage results in the fluorescent signal which is monitored by Real-Time PCR detection system.
+ An increase in the fluorescent signal (CT) is proportional to the amount of the specific PCR product.
- PRODUCT SPECIFICATION
+ Each isolated DNA should be tested with wild type and mutant real time pcr mastermixes.
+ The kit provides reagents in a ready-to-use mastermix format which has been specifically adapted for 5’ nuclease PCR using SNP analyses.
+ The test system is designed for use with sequence specific primers and probe.
+ The fluorescence of mutation analysis is FAM and HEX/JOE.
+ Also each mastermix contains an internal control labelled with CY5 dye.
+ Mutations and related dyes can be seen in Table 1.
