ASSESSMENT OF CLASSIC PHENYLKETONURIA MUTATION SITES IN ATHLETES FROM SOUTHERN XINJIANG

Abstract

Objective: This study aimed to determine the incidence and genetic mutation patterns of classic phenylketonuria (PKU) among live-born infants in southern Xinjiang, with a focus on athletes and sport-involved populations. The research explored the specific mutations in the phenylalanine hydroxylase (PAH) gene among Uygur children diagnosed with classic PKU, providing data to support targeted medical interventions and nutritional strategies for athletes. Methods: From 2011 to 2020, PKU screening was conducted using a biochemical fluorescence method to measure phenylalanine concentrations from dried blood spots. Further metabolic analysis was performed using tandem mass spectrometry. Genetic analysis involved sequencing of the PAH gene's 13 exons and their flanking intronic regions in 30 athletes diagnosed with classic PKU, identifying mutation sites. Results: Over the decade, 1,192,663 newborns were screened, identifying 165 children with PKU, indicating a higher prevalence compared to global and national averages. Sixteen types of mutations were discovered across 60 chromosomes, with a mutation detection rate of 96.67%. The most common mutation was a silent mutation in exon 7 (c.735 "G" to "A"), accounting for 26.56% of the mutations. This data underscores the unique genetic landscape of PKU in this region. Conclusions: The findings highlight the higher incidence of PKU in southern Xinjiang, particularly among the Uygur population, and outline the diverse PAH gene mutations present. For athletic populations, understanding these genetic factors is crucial for managing PKU through diet and therapy, ultimately aiding in the maintenance of optimal health and athletic performance. This comprehensive genetic profiling assists in developing personalized care strategies for athletes, promoting better health outcomes and performance sustainability.