[一个患有X连锁肾上腺脑白质营养不良家系的遗传分析]
[Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy].
作者信息
Pan Qinqing, Zheng Xiaosheng, Cen Zhidong, Luo Wei
机构信息
Department of Neurology, the First People's Hospital of Wuyi County, Wuyi, Zhejiang 321200, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1104-1106. doi: 10.3760/cma.j.issn.1003-9406.2019.11.012.
OBJECTIVE
To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs.
METHODS
Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing.
RESULTS
Both the proband and his mother presented with walking difficulty. A previously known variant, c.623T to A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both.
CONCLUSION
X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree.
目的
探讨一个以双下肢痉挛性截瘫为表现的X连锁肾上腺脑白质营养不良家系的遗传基础。
方法
从患者及其母亲的外周血样本中提取基因组DNA。使用与痉挛性截瘫相关基因的检测板检测潜在变异。通过聚合酶链反应（PCR）和桑格测序验证候选变异。
结果
先证者及其母亲均有行走困难。在位于X染色体上的ABCD1基因中，二者均鉴定出一个先前已知的变异，即c.623T突变为A（p.V208E）。
结论
对于这个家系，应考虑将X连锁肾上腺脑白质营养不良作为一种可能的诊断。
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