Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy
Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy
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DOI：
10.1006/mgme.1998.2779
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发表时间：
1999-02-01
影响因子：
3.8
通讯作者：
Chong, SS
中科院分区：
文献类型：
--
作者：
Boehm, CD;Cutting, GR;Chong, SS
x连锁肾上腺脑白质营养不良是一种严重且经常致命的疾病，影响神经系统白质、肾上腺皮质和睾丸。在X-ALD中突变的基因编码一种过氧化物酶体膜蛋白ALDP，血浆中长链脂肪酸的存在对受影响的男性和携带者女性具有很高的诊断价值，但从生化角度排除携带者状态是不可靠的，X-ALD基因的分子分析有可能准确地识别或排除携带者状态，但由于常染色体相似物的存在而变得复杂。我们已经开发并验证了一种针对这种疾病的强大的DNA诊断测试，包括X-ALD基因的非嵌套基因组扩增，然后是荧光染料引物测序和分析。该方案提供了一种高度可靠的方法来确定有传播X-ALD风险的妇女的携带者状态，适用于临床诊断实验室。(C) 1999学术出版社。
X-linked adrenoleukodystrophy is a serious and often fatal disorder, affecting the white matter of the nervous system, the adrenal cortex, and the testis. The gene mutated in X-ALD encodes a peroxisomal membrane protein, ALDP, The presence of very long chain fatty acids in plasma is highly diagnostic for affected males and carrier females, but exclusion of carrier status biochemically is unreliable, Molecular analysis of the X-ALD gene has the potential to either identify or rule out carrier status accurately, but is complicated by the existence of autosomal paralogs. We have developed and validated a robust DNA diagnostic test for this disorder involving nonnested genomic amplification of the X-ALD gene, followed by fluorescent dye-primer sequencing and analysis. This protocol provides a highly reliable means of determining carrier status in women at risk for transmitting X-ALD and is applicable to a clinical diagnostic laboratory. (C) 1999 Academic Press.