Proteolipid Protein 1 Gene Sequencing of Hereditary Spastic Paraplegia

Overview

Journal Neural Regen Res

Date 2015 Mar 14

PMID 25767481

Authors

Yu Gao

Lumei Chi

Yinshi Jin

Guangxian Nan

Affiliations

Soon will be listed here.

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.

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