HRMCAHigh Resolution Melting Curve Analysis
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At least one hrMCA variant profile was noted in each of the 16 patients screened and variant profiles were noted in 218 (14%) of all the analysed PCR fragments (96 per patient).
Secondly, in some cases only archived DNA extracted using different methods was available, which may have resulted in missed variants owing to compromised DNA integrity or the presence of impurities known to influence the outcomes of hrMCA. Lastly, some of the patients could carry deep intronic mutations resulting in novel splice sites and inclusion of intronic sequences into the mRNA.
With that in mind, the major aim of this study was testing hrMCA as a screening tool for detection and characterisation of small/point mutations in the DMD gene in the local laboratory environment.