The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, University of Sydney, Sydney, New South Wales 2006, Australia.
J Clin Neurosci. 2011 Sep;18(9):1231-4. doi: 10.1016/j.jocn.2010.12.049. Epub 2011 Jul 7.
Chromosomal copy number association studies in patients with amyotrophic lateral sclerosis (ALS) using blood DNA have so far been inconclusive. We employed genome-wide screening to look for copy number imbalances (CNIs) between blood and hair DNA from three ALS-discordant monozygotic twin pairs and two phenotypically normal monozygotic twin pairs. Genome-wide chromosomal copy number was estimated using AffyMetrix 6.0 GeneChips. CNIs were sought both between twin pairs and between blood and hair DNA from the same individuals. Two blood CNIs were found in one ALS-discordant twin pair. In another ALS-discordant twin pair, seven hair CNIs were detected. CNIs were also found between blood and hair in three individuals. Imbalances in blood copy number appear to be rare in monozygotic twin pairs, but hair may harbour more CNIs than blood. Copy number differences between blood and hair from the same individuals appear to be common. Since brain and hair share a common ectodermal origin, hair may be a more suitable tissue than blood to estimate somatic copy number variation in the brain.
迄今为止，使用血液 DNA 进行的肌萎缩侧索硬化症 (ALS) 患者染色体拷贝数关联研究尚无定论。我们采用全基因组筛选方法，寻找三对 ALS 不一致的同卵双胞胎和两对表型正常的同卵双胞胎的血液和头发 DNA 之间的拷贝数不平衡（CNI）。使用 AffyMetrix 6.0 GeneChips 估计全基因组染色体拷贝数。在双胞胎之间以及同一个体的血液和头发 DNA 之间寻找 CNI。在一对 ALS 不一致的双胞胎中发现了两个血液 CNI。在另一对 ALS 不一致的双胞胎中，检测到七个头发 CNI。在三个人中也发现了血液和头发之间的 CNI。同卵双胞胎中血液拷贝数的不平衡似乎很少见，但头发中的 CNI 可能比血液多。来自同一人的血液和头发之间的拷贝数差异似乎很常见。由于大脑和头发具有共同的外胚层起源，因此头发可能比血液更适合估计大脑中的体细胞拷贝数变异。
