These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
    Author: Zhang J, Meng J, Zhai X, Fang G, Gao J, Shi M, Wang Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771.
    Abstract:
    OBJECTIVE: To investigate the mutations of phenylalanine hydroxylase (PAH) gene in the cases of classical phenylketonuria (PKU). METHODS: The exons 3-12 of the PAH gene in 32 PKU patients from Inner Mongolia were studied by using PCR-single strand conformation polymorphism technique and DNA direct sequencing. RESULTS: Fourteen point mutations were identified. The frequencies of mutations were R243Q (12/64), Y356X (6/64), Y204C (5/64), R261Q (2/64), Y161S (2/64), R252Q (1/64), R111X (2/64), D282G (1/64), S303P (1/64), G239D (1/64), R413P (1/64), IVS7nt+2 (2/64), IVS4nt+3 (1/64) and IVS9nt+34 (2/64). Two novel mutations IVS4nt+3 (G>C) and IVS9nt+34 (G>A) were first found. The S303P (T>C) and D282G (A>G) were first documented in Chinese PAH gene. CONCLUSION: This study demonstrated the variety of the mutation type PAH gene of PKU in Inner Mongolia population, and confirmed that R243Q, Y356X, Y204C were the hot spots of PAH gene mutation.
    [Abstract] [Full Text] [Related] [New Search]