肌萎缩侧索硬化患者SOD1基因突变检测及突变与临床表型的关系

doi:10.3724/SP.J.1005.2011.00720

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HEREDITAS ›› 2011, Vol. 33 ›› Issue (7): 720-724.doi: 10.3724/SP.J.1005.2011.00720

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Screening of mutations in SOD1 gene and analysis of geno-type-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis

NIU Yan-Fang^1,2, XIONG Hui-Ling^1,2, WU Jian-Jun², CHEN Yan², QIAO Kai², WU Zhi-Ying^1,2

1. Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China 2. Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China

Received:2010-12-28 Revised:2011-04-15 Online:2011-07-20 Published:2011-07-25

Abstract

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 mu-tations 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 pheno-type 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.

Key words: SOD1 gene, mutation, amyotrophic lateral sclerosis

NIU Yan-Fang, XIONG Hui-Ling, WU Jian-Jun, CHEN Yan, JIAO Kai, TUN Zhi-Yang. Screening of mutations in SOD1 gene and analysis of geno-type-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis[J]. HEREDITAS, 2011, 33(7): 720-724.

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Screening of mutations in SOD1 gene and analysis of geno-type-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis

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