Spastin gene mutation in Chinese patients with hereditary spastic paraplegia

Guo hua Zhao, Bei sha Tang, Wei Luo, Kun Xia, Mao you Zhuang, Fan bin Kong, Xin xiang Yan, Han xiang Deng, Jianfeng Xiao, Jia hui Xia

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Objective: To investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia(HSP) and thus provide a basis for the gene diagnosis of HSP. Methods: Mutation of spastin gene was screened by polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing in 31 unrelated affected HSP individuals in China, of whom 22 were from autosomal dominant families and 9 were sporadic HSP patients. Co-segregation analysis was carried out after the finding of abnormal SSCP bands. Results: Six cases were found to have abnormal SSCP bands, and among them, two missense mutations (T1258A, A1293G in exon 8) and one deletion mutation (1667delACT or 1668delCTA or 1669delTAC in exon 14) were found and all of them were not reported previously. They were all co-segregated with the disease and were localized within the functional domain of spastin gene. Besides, T1258A was seen in two unrelated families. Conclusion: The mutation rate (18.2%) in autosomal dominant HSP in Chinese patients is comparatively low. Point mutation is the major mutation type and exon 8 may be the mutation hot spot.

Original languageEnglish (US)
Pages (from-to)177-180
Number of pages4
JournalChinese Journal of Medical Genetics
Volume20
Issue number3
StatePublished - Jun 1 2003
Externally publishedYes

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Hereditary Spastic Paraplegia
Mutation
Single-Stranded Conformational Polymorphism
Exons
Genes
Sequence Deletion
Mutation Rate
Missense Mutation
DNA Sequence Analysis
Point Mutation
China
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Zhao, G. H., Tang, B. S., Luo, W., Xia, K., Zhuang, M. Y., Kong, F. B., ... Xia, J. H. (2003). Spastin gene mutation in Chinese patients with hereditary spastic paraplegia. Chinese Journal of Medical Genetics, 20(3), 177-180.

Spastin gene mutation in Chinese patients with hereditary spastic paraplegia. / Zhao, Guo hua; Tang, Bei sha; Luo, Wei; Xia, Kun; Zhuang, Mao you; Kong, Fan bin; Yan, Xin xiang; Deng, Han xiang; Xiao, Jianfeng; Xia, Jia hui.

In: Chinese Journal of Medical Genetics, Vol. 20, No. 3, 01.06.2003, p. 177-180.

Research output: Contribution to journalArticle

Zhao, GH, Tang, BS, Luo, W, Xia, K, Zhuang, MY, Kong, FB, Yan, XX, Deng, HX, Xiao, J & Xia, JH 2003, 'Spastin gene mutation in Chinese patients with hereditary spastic paraplegia', Chinese Journal of Medical Genetics, vol. 20, no. 3, pp. 177-180.
Zhao GH, Tang BS, Luo W, Xia K, Zhuang MY, Kong FB et al. Spastin gene mutation in Chinese patients with hereditary spastic paraplegia. Chinese Journal of Medical Genetics. 2003 Jun 1;20(3):177-180.
Zhao, Guo hua ; Tang, Bei sha ; Luo, Wei ; Xia, Kun ; Zhuang, Mao you ; Kong, Fan bin ; Yan, Xin xiang ; Deng, Han xiang ; Xiao, Jianfeng ; Xia, Jia hui. / Spastin gene mutation in Chinese patients with hereditary spastic paraplegia. In: Chinese Journal of Medical Genetics. 2003 ; Vol. 20, No. 3. pp. 177-180.
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