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首页> 外文期刊>Pediatric neurology >ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.
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ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.

机译：五名中国异色性白细胞营养不良患者的ARSA基因突变。

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摘要

The objective was to identify arylsulfatase A mutations, if any, in five Chinese patients with metachromatic leukodystrophy. This would be the first such study in China. All eight exons and exon-intron boundaries of the arylsulfatase A gene (ARSA) were amplified with polymerase chain reaction, which was followed by direct DNA sequencing. Patient 1 exhibited a homozygous mutation at c.954G>A (p.W318X) in exon 5. Patient 2 exhibited compound heterozygous mutations, identified as one allele with the c.862C>T (p.R288C) missense mutation in exon 5 and the other allele with the c.1338dupC frameshift mutation in exon 8. Patient 3 exhibited only a c.179_180dupCA frameshift mutation in exon 1 in one allele. Patients 4 and 5 exhibited identical compound heterozygous mutations, identified as one allele with the c.296G>T (p.G99V) missense mutation and the other allele with the c.251G>A (p.R84Q) missense mutation in exon 2. Six DNA variants of the arylsulfatase A gene were identified: two novel frameshift mutations(c.179_180dupCA and c.1338dupC), one known nonsense mutation (p.W318X), and three known missense mutations (p.R84Q, p.G99V, and p.R288C).
机译：目的是鉴定五名中国变色性白细胞营养不良患者的芳基硫酸酯酶A突变（如果有）。这将是中国的首次此类研究。通过聚合酶链反应扩增了芳基硫酸酯酶A基因（ARSA）的所有八个外显子和外显子-内含子边界，然后进行直接DNA测序。患者1在第5外显子的c.954G> A（p.W318X）处显示纯合突变。患者2在第5外显子和c.862C> T（p.R288C）错义突变的一个等位基因上显示了复合杂合突变。另一个等位基因在外显子8中具有c.1338dupC移码突变。患者3在一个等位基因中仅在第1外显子中表现出c.179_180dupCA移码突变。患者4和5表现出相同的化合物杂合突变，在外显子2中被鉴定为一个等位基因具有c.296G> T（p.G99V）错义突变，另一个等位基因具有c.251G> A（p.R84Q）错义突变。鉴定了芳基硫酸酯酶A基因的六个DNA变体：两个新的移码突变（c.179_180dupCA和c.1338dupC），一个已知的无意义突变（p.W318X）和三个已知的错义突变（p.R84Q，p.G99V和第R288C页）。

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