Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2003
[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Gao Hua, Li Wei, Yan Zong-he, Jiang Mei-hua, Rui De-rong, He Yun-shao
Аннотация
OBJECTIVE: To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.
METHODS: Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.
RESULTS: A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.
CONCLUSION: The E122G mutation in human OTC gene may cause late onset OTC deficiency.
METHODS: Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.
RESULTS: A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.
CONCLUSION: The E122G mutation in human OTC gene may cause late onset OTC deficiency.
Предметные рубрики MeSH
Age of OnsetBase SequenceChild, PreschoolDNADNA Mutational AnalysisFamily HealthFatal OutcomeFemaleHumansMaleModels, MolecularMutation, MissenseOrnithine CarbamoyltransferaseOrnithine Carbamoyltransferase Deficiency DiseasePedigreePolymorphism, Single-Stranded ConformationalProtein Structure, Secondary