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ABCD1 gene mutations in chinese patients with X-linked adrenoleukodystrophy
Pan, H; Xiong, H; Wu, Y; Zhang, YH; Bao, XH; Jiang, YW; Wu, XR
刊名PEDIATRIC NEUROLOGY
2005-08-01
DOI10.1016/j.pediatrneurol.2005.03.006
33期:2页:114-120
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]ALD-GENE ; ADRENOMYELONEUROPATHY ; IDENTIFICATION ; PHENOTYPE ; FAMILIES
英文摘要

X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD1 This study used direct sequencing of genomic polymerase chain reaction products to perform mutational analysis of ABCD1 in 34 unrelated Chinese X-linked adrenoleukodystrophy patients and 27 of their maternal relatives. Thirty-two different mutations were identified in 34 patients. Most of the mutations (62.5%, 20/32) were missense mutations, six of which are novel. One novel single nucleotide polymorphism, c.1047 C>A, was also found in three patients and their mothers, which can also be observed in 1 of 120 normal control alleles. Two synonymous mutations (p.L516L and p.V349V) appeared in two unrelated patients, and no other mutations were evident after screening the gene′s 10 exons. Seventeen of the probands′ mothers were found to be heterozygous for the same mutations present in their sons′ ABCD1 gene. Eight of the 10 screened sisters and cousins were identified as carriers. There were no hot spot mutations in the ABCD1 gene of Chinese patients with X-linked adrenoleukodystrophy. However, over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons. No obvious relationship between genotype and phenotype was observed. (c) 2005 by Elsevier Inc. All rights reserved.

语种英语
WOS记录号WOS:000231837500006
引用统计
被引频次:18[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64081
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, First Hosp, Dept Pediat, Beijing 100034, Peoples R China
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GB/T 7714
Pan, H,Xiong, H,Wu, Y,et al. ABCD1 gene mutations in chinese patients with X-linked adrenoleukodystrophy[J]. PEDIATRIC NEUROLOGY,2005,33(2):114-120.
APA Pan, H.,Xiong, H.,Wu, Y.,Zhang, YH.,Bao, XH.,...&Wu, XR.(2005).ABCD1 gene mutations in chinese patients with X-linked adrenoleukodystrophy.PEDIATRIC NEUROLOGY,33(2),114-120.
MLA Pan, H,et al."ABCD1 gene mutations in chinese patients with X-linked adrenoleukodystrophy".PEDIATRIC NEUROLOGY 33.2(2005):114-120.
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