Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis

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 Asi...

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Published inPloS one Vol. 8; no. 7; p. e68106
Main Authors Ye, Cheng-hui, Lu, Xi-lin, Zheng, Min-ying, Zhen, Jun, Li, Zhi-Ping, Shi, Lei, Liu, Zhi-yong, Feng, Lu-yang, Pei, Zhong, Yao, Xiao-li
Format Journal Article
LanguageEnglish
Published United States Public Library of Science 09.07.2013
Public Library of Science (PLoS)
Subjects
Adult
Amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis - genetics
Asian Continental Ancestry Group - genetics
Biology
China
DNA-Binding Proteins - genetics
Exons
Female
Genetic aspects
Genetic Association Studies
Humans
Male
Medical research
Medicine
Middle Aged
Mutation
Protein binding
China
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Summary: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.
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Competing Interests: The authors have declared that no competing interests exist.
Conceived and designed the experiments: XLY ZP CHY XLL ZYL. Performed the experiments: CHY XLL LYF LS. Analyzed the data: CHY XLL. Contributed reagents/materials/analysis tools: XLY ZP JZ ZPL MYZ. Wrote the paper: CHY XLL XLY ZP. Provided Clinical support: XLY ZP ZPL JZ.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0068106