Li Jiao, He Ji, Tang Lu, Chen Lu, Xu Lianping, Ma Yan, Zhang Nan, Fan Dongsheng
a Department of Neurology , Peking University Third Hospital , 49 North Garden Road, Haidian District , Beijing 100191 , China.
Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):148-50. doi: 10.3109/21678421.2015.1074705. Epub 2015 Oct 14.
TUBA4A gene has recently been identified as a potential candidate amyotrophic lateral sclerosis(ALS)-associated gene using exome-wide rare variant burden analysis. The identification of novel TUBA4A variants in Italian ALS patients further support the role of TUBA4A in ALS. We sequenced the coding region of exon 4 in the TUBA4A gene in a cohort consisting of 80 familial ALS probands, 500 sporadic ALS patients and 500 healthy control individuals. No TUBA4A causative variants were identified in the ALS patients. In conclusion, our current results did not find an association between TUBA4A and ALS in Chinese patients, and further studies will be required.
最近，通过全外显子组罕见变异负担分析，TUBA4A基因已被确定为肌萎缩侧索硬化症（ALS）相关的潜在候选基因。在意大利ALS患者中发现的新型TUBA4A变异进一步支持了TUBA4A在ALS中的作用。我们对一个队列中的80名家族性ALS先证者、500名散发性ALS患者和500名健康对照个体的TUBA4A基因第4外显子编码区进行了测序。在ALS患者中未发现TUBA4A致病变异。总之，我们目前的结果未发现中国患者中TUBA4A与ALS之间存在关联，需要进一步研究。
