Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2005
[ATM gene mutations in Chinese patients with ataxia telangiectasia].
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Jiang Hong, Tang Beisha, Hu Zhengmao, Xia Kun, Xu Bo, Tang Jianguang, Shen Lu
Аннотация
OBJECTIVE: To investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).
METHODS: Mutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.
RESULTS: A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.
CONCLUSION: Totally three novel ATM gene mutations were identified in two Chinese AT patients.
METHODS: Mutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.
RESULTS: A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.
CONCLUSION: Totally three novel ATM gene mutations were identified in two Chinese AT patients.
Предметные рубрики MeSH
Ataxia Telangiectasia Mutated ProteinsBase SequenceCell Cycle ProteinsChildChinaCodon, NonsenseDNA Mutational AnalysisDNA-Binding ProteinsFemaleGene FrequencyHumansMaleMutationMutation, MissenseProtein Serine-Threonine KinasesReverse Transcriptase Polymerase Chain ReactionSpinocerebellar AtaxiasTumor Suppressor Proteins