A diagnostic gene chip for hereditary spastic paraplegias.
- Resource Type
- Article
- Authors
- Luo, Yingying; Du, Juan; Zhan, Zixiong; Chen, Chong; Wang, Junling; Hu, Yiqiao; Hu, Zhengmao; Xia, Kun; Tang, Beisha; Shen, Lu
- Source
- Brain Research Bulletin. Aug2013, Vol. 97, p112-118. 7p.
- Subject
- *GENE expression microarrays
*FAMILIAL spastic paraplegia
*POINT mutation (Biology)
*PERIPHERAL neuropathy
*GENETIC testing
*MEDICAL research
*DIAGNOSIS
- Language
- ISSN
- 0361-9230
Highlights: [•] 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. [Copyright &y& Elsevier]