title: Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia.
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.
authors.affiliation: Second Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130033, Jilin Province, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Second Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130033, Jilin Province, China.
authors.forename: Lumei
authors.initials: L
authors.lastname: Chi
authors.affiliation: Second Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130033, Jilin Province, China.
authors.forename: Yinshi
authors.initials: Y
authors.lastname: Jin
authors.affiliation: Second Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130033, Jilin Province, China.
authors.forename: Guangxian
authors.initials: G
authors.lastname: Nan
keywords: amino acid; gene sequencing; hereditary spastic paraplegia; neural regeneration; proteolipid protein 1; sequence analysis