Methods:
Thirteen exons of the PAH gene were sequenced in 84 cases with PKU
diagnosed during neonatal genetic and metabolic disease screening in
Shaanxi province, and their mutations were analyzed. We designed and
developed a screening kit to detect 9 mutation sites covering more than
50% of the PAH mutations found in Shaanxi province
(c.728G>A,
c.1197A>T, c.331C>T, c.1068C>A,
c.611A>G, c.1238G>C, c.721C>T,
c.442-1G>A, and c.158G>A) by using
amplification refractory mutation system-polymerase chain reaction
(ARMS-PCR) combined with fluorescent probe technology. Peripheral blood
and dried blood samples from PKU families were used for clinical
verification of the newly developed kit.