Conclusion:
This newly developed kit based on ARMS-PCR combined with fluorescent probe technology can be used to detect common PAH gene mutations.
Keywords: phenylketonuria; phenylalanine hydroxylase; gene mutation; amplification refractory mutation system PCR; next-generation sequencing
Abbreviations: ARMS, amplification refractory mutation system; MLPA, multiplex ligation-dependent probe amplification; NGS, next-generation sequencing; PAH, phenylalanine hydroxylase; PCR, polymerase chain reaction; PKU, phenylketonuria 6-FAM (6-Carboxyfluorescein); HEX:5-hexachloro-fluorescein
STR:short tandem repeat;BHQ1:black hole quencher 1