To investigate the incidence of phenylalanine hydroxylase (PAH) deficiency and PAH genotypes in neonates in Hainan, China. Methods: We performed heal stick to collect blood and obtain dry blood spot specimens from newborns in Hainan from January 2007 to December 2016. Phenylalanine (Phe) concentration in these dry blood spots was measured by the fluorescence method to screen phenylketonuria (PKU). For suspicious samples, the genotypes of the PAH gene were amplified by biotin labeled oligonucleotide primers. Polymerase chain reaction (PCR) products were then analyzed by flow-through hybridization to detect genotypes. At the same time, peripheral blood samples of children suspicious of PKU and their parents were used to perform gene sequencing. Results: Of the 914,520 newborns screened, 29 of them had PAH deficiency. The incidence of PAH deficiency in Hainan was 3.17/100,000. A total of 58 mutant alleles belonging to 15 different types were identified in the 29 patients. In terms of genotypes frequency, the top 4 were: c.611A > G 20.7% (12/58) , c.728G > A 17.2%, c.158G > A 15.2% (9/58) and c.721C > T 13.8% (8/58). The frequencies of other genotypes were all below 10%. Conclusion: The incidence of PAH deficiency in Hainan is relatively high among all provinces in southern China. With a total frequency of 67.2%, c.611A > G, c.728G > A, c.158G > A and c.721C > T, and are the most common PAH gene genotypes.
Keywords: Hainan; PAH gene; genotypes; newborns; phenylketonuria.