Article
[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2004
Pan Hong, Xiong Hui, Zhang Yue-hua, Wu Ye, Bao Xin-hua, Jiang Yu-wu, Wu Xi-ru
Abstract excerpt
OBJECTIVE: To investigate mutations of ABCD1 gene in X- linked adrenoleukodystrophy (ALD) patients in China. METHODS: Polymerase chain reaction and DNA direct sequencing were employed to analyze the 10 exons of ABCD1 gene in 25 ALD patients. RESULTS: Seventeen mutations in different exons (except exons 4, 9 and 10) were identified in 18 of 25 patients. Most of the mutations were missense mutations, including...
Topics
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters
- Adrenoleukodystrophy
- Age of Onset
- Base Sequence
- China
- Codon, Nonsense
- DNA
- DNA Mutational Analysis
- Humans
- Male
- Mutation
- Mutation, Missense