Six novel mutations in PAH gene detected by sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore new mutation in phenylalanine hydroxylase (PAH) gene.</p><p><b>METHODS</b>The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing.</p><p><b>RESULTS</b>Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected.</p><p><b>CONCLUSION</b>M276K, M276R, 280insT, IVS10nt+32T-->A, IVS4nt+47C-->T were demonstrated as novel mutations in comparison with the PAH mutation database. One mission mutation (H290R) was first documented in Chinese PKU gene.</p>