Absence of Mutations in Exon 6 of the TARDBP Gene in 207 Chinese Patients with Sporadic Amyotrohic Lateral Sclerosis

PLoS One

Xi-lin Lu¹  Min-ying Zheng²  Cheng-hui Ye²  Lu-yang Feng²  Zhi-Ping Li²  Xiao-li Yao²  Lei Shi³  Zhi-yong Liu⁴  Zhong Pei⁵  Jun Zhen⁵ 

[1] Department of Geriatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, PR China;Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China;Department of Rehabilitation Medicine, The Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, Guangdong, China;Department of Respiratory Medicine, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China;Guangdong key laboratory for diagnosis and treatment of major neurological diseases, Guangdong, China

关键词: Amyotrophic lateral sclerosis;    Mutation;    Mutation detection;    Chinese people;    Substitution mutation;    China;    Han Chinese people;    DNA-binding proteins;   

DOI  :  10.1371/journal.pone.0068106

学科分类：医学（综合）

来源: Public Library of Science

【 摘 要 】

Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS). Recently, several novel TARDBP exon 6 mutants have been reported in patients with ALS in Europe and America but not in Asia. To further examine the spectrum and frequency of TARDBP exon 6 mutations, we investigated their frequency in ethnic Chinese patients with sporadic ALS. TARDBP exon 6 was screened by direct sequencing in 207 non-SOD1 SALS patients and 230 unrelated healthy controls but no mutations were identified. Our data indicate that exon 6 mutations in TARDBP are not a common cause of SALS in Han Chinese population from Southern Mainland China.

【 授权许可】

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