中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2012, Vol. 7 ›› Issue (2): 91-95.

• 原著:脊髓损伤修复保护与再生 • 上一篇    下一篇

Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia

  

  • 收稿日期:2011-09-06 修回日期:2011-12-19 出版日期:2012-01-15 发布日期:2012-01-15

Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia

Yu Gao, Lumei Chi, Yinshi Jin, Guangxian Nan   

  1. Second Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130033, Jilin Province, China
  • Received:2011-09-06 Revised:2011-12-19 Online:2012-01-15 Published:2012-01-15
  • Contact: Gua-ngxian Nan, Doctor, Profes-sor, Chief physician, Doctoral supervisor, Second Depart-ment of Neurology, Chi-na-Japan Union Hospital of Jilin University, Changchun 130033, Jilin Province, China ngx041550@yahoo.com.cn
  • About author:Yu Gao☆, Doctor, Attending physician, Second Depart-ment of Neurology, Chi-na-Japan Union Hospital of Jilin University, Changchun 130033, Jilin Province, China

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Abstract:

PCR amplification and sequencing of whole blood DNA from an individual with hereditary spastic paraplegia, as well as family members, revealed a fragment of proteolipid protein 1 (PLP1) gene exon 1, which excluded the possibility of isomer 1 expression for this family. The fragment sequence of exon 3 and exon 5 was consistent with the proteolipid protein 1 sequence at NCBI. In the proband samples, a PLP1 point mutation in exon 4 was detected at the basic group of position 844, T→C, phenylalanine→leucine. In proband samples from a male cousin, the basic group at position 844 was C, but gene sequencing signals revealed mixed signals of T and C, indicating possible mutation at this locus. Results demonstrated that changes in PLP1 exon 4 amino acids were associated with onset of hereditary spastic paraplegia.

Key words: amino acid, gene sequencing, hereditary spastic paraplegia, neural regeneration, proteolipid protein 1, sequence analysis