title: Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis.
abstract: 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.
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
authors.forename: Cheng-hui
authors.initials: CH
authors.lastname: Ye
authors.forename: Xi-lin
authors.initials: XL
authors.lastname: Lu
authors.forename: Min-ying
authors.initials: MY
authors.lastname: Zheng
authors.forename: Jun
authors.initials: J
authors.lastname: Zhen
authors.forename: Zhi-Ping
authors.initials: ZP
authors.lastname: Li
authors.forename: Lei
authors.initials: L
authors.lastname: Shi
authors.forename: Zhi-yong
authors.initials: ZY
authors.lastname: Liu
authors.forename: Lu-yang
authors.initials: LY
authors.lastname: Feng
authors.forename: Zhong
authors.initials: Z
authors.lastname: Pei
authors.forename: Xiao-li
authors.initials: XL
authors.lastname: Yao
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D004268:DNA-Binding Proteins