title: [Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis].
abstract: In this study, we screened for the Cu/Zn superoxide dismutase (SOD1) mutations in 8 probands who had been clinically diagnosed with familiar amyotrophic lateral sclerosis (FALS) using PCR and direct sequencing. Two known mutations were detected in the three probands. Two probands carried the same Cys111Tyr (c.332G > A) mutation in exon 4, and others carried Gly147Asp (c.440G > A) mutation in exon 5. These two mutations were first reported in the Chinese ALS patients. After reviewing all clinical data of these three pedigrees, we found that Cys111Tyr led to a relatively mild phenotype and Gly147Asp displayed a rapidly progression, which needs to be confirmed by further study in more ALS patients. In conclusion, this study extends the spectrum of SOD1 mutations in the Chinese FALS patients and facilitates to investigate characteristics and distribution of SOD1 mutations in the Chinese population.
authors: Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China. niuyanfang1984@yahoo.com.cn
authors: Yan-Fang
authors: YF
authors: Niu
authors: Hui-Ling
authors: HL
authors: Xiong
authors: Jian-Jun
authors: JJ
authors: Wu
authors: Yan
authors: Y
authors: Chen
authors: Kai
authors: K
authors: Qiao
authors: Zhi-Ying
authors: ZY
authors: Wu
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1