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[Six novel mutations in PAH gene detected by sequencing]
Zhi Zhang1, Yun-shao He, Shu-xin Peng
1Department of Anatomy, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China. zhizhang@gzsums.edu.cn
Objective:
To explore new mutation in phenylalanine hydroxylase (PAH) gene.
Methods:
The PAH genes from 40 phenylketonuria (PKU) patients and 30 normal controls were screened by PCR-single strand conformation polymorphism (SSCP) and further sequencing.
Results:
Eleven mutations and 3 polymorphisms in PAH gene were found. No abnormalities in the PAH gene from 30 controls were detected.
Conclusion:
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.