Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis

被引：8
|
作者：
Pamphlett, Roger [1 ]
Morahan, Julia M. [1 ]
机构：
[1] Univ Sydney, Stacey Motor Neuron Dis Lab, Dept Pathol D06, Sydney, NSW 2006, Australia
来源：
JOURNAL OF CLINICAL NEUROSCIENCE | 2011年 / 18卷 / 09期
基金：
英国医学研究理事会;
关键词：
Amyotrophic lateral sclerosis; Copy number; Microarray; Motor neuron disease; Somatic mutation; Twins; SOMATIC MOSAICISM; GENOME;
D O I：
10.1016/j.jocn.2010.12.049
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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. (C) 2011 Elsevier Ltd. All rights reserved.
引用
收藏
页码：1231 / 1234
页数：4
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