Objective To detect PAH gene point mutation of phenylalanine hydroxylase of PKU patients in Shenzhen city.
Methods Using 7 pairs of primers, thirteen members from 3 families were analyzed by using PCR-SSCP and silver staining.
Results Of the 3 families, point mutations were found in only 2 families, one located on intron 10, the other located on intron 11.
Conclusion The DNA point mutations may be single nucleotide polylnorphism sites.