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: [Mutational analysis of MECP2 gene in Rett syndrome].
    Author: Pan H, Wang Y, Meng H, Bao X, Zhang Y, Shen Y, Wu X.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Aug; 19(4):276-80. PubMed ID: 12170461.
    Abstract:
    OBJECTIVE: To investigate mutations of MECP2 gene in classical sporadic Rett syndrome (RTT) patients in China. METHODS: Polymerase chain reaction, single strand conformation polymorphism, cloning and direct sequencing were employed to analyse the three exons of MECP2 gene in 26 RTT patients and their parents, and in 2 sisters of 2 of the RTT patients. RESULTS: Nine different mutations in exon 3 were identified in 14 of the 26 patients with RTT, including 3 missense mutations, 3 nonsense mutations, and 3 frame-shift mutations (2 deletion mutations and 1 insert mutation); 2 of these were novel. A missense variant was also identified, which was carried by unaffected father and affected daughter. CONCLUSION: Mutations in MECP2 gene were found over 50% of patients with RTT in China.
    [Abstract] [Full Text] [Related] [New Search]