A diagnostic gene chip for hereditary spastic paraplegias.

Brain Research Bulletin(2013)

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摘要
•The HSP gene-chip consists of ninety-six hot point mutations.•We have used this diagnostic gene chip to detect ninety-six HSP patients.•The call rate of the diagnostic gene chip is 97.7% and the consistency is 99.0%.•We genetically diagnosed a HSP patient with a c.316G>C substitution in SPG6.•The HSP gene-chip is a useful technique for preliminary screening of this disease.
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关键词
Gene chip,Gene diagnosis,Hereditary spastic paraplegia,Single-nucleotide polymorphisms
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