Abstract

Phenylketonuria (PKU), resulting from mutations in the phenylalanine hydroxylase (PAH) gene, requires precise genetic analysis for effective management. This study proposes an electrophoresis-based genotyping strategy tailored for rapid and reliable assessment of PAH gene variations in the Chinese Han population. By leveraging the unique allelic frequencies and mutation spectra prevalent in this population, the proposed approach facilitates efficient screening and characterization of PAH mutations. The method’s robustness and accuracy are demonstrated through the analysis of a cohort of Chinese Han individuals with PKU, revealing a spectrum of PAH gene mutations. The findings underscore the utility of this genotyping strategy in enabling timely diagnosis and personalized treatment of PKU in the Chinese Han population.