Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2002
[Mutational analysis of MECP2 gene in Rett syndrome].
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Pan Hong, Wang Yanping, Meng Hongdi, Bao Xinhua, Zhang Yan, Shen Yan, Wu Xiru
Аннотация
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.
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.
Предметные рубрики MeSH
Base SequenceChildChild, PreschoolChromosomal Proteins, Non-HistoneDNADNA Mutational AnalysisDNA-Binding ProteinsFemaleHumansInfantMethyl-CpG-Binding Protein 2Mutagenesis, InsertionalMutationMutation, MissensePolymorphism, Single-Stranded ConformationalRepressor ProteinsRett SyndromeSequence Deletion