Article
[Mutational analysis of MECP2 gene in Rett syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2002
Pan Hong, Wang Yanping, Meng Hongdi, Bao Xinhua, Zhang Yan, Shen Yan, Wu Xiru
Abstract excerpt
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...
Topics
- Base Sequence
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- DNA
- DNA Mutational Analysis
- DNA-Binding Proteins
- Female
- Humans
- Infant
- Methyl-CpG-Binding Protein 2
- Mutagenesis, Insertional
- Mutation
- Mutation, Missense