Mutation and polymorphism analysis of SPG4 and SPG3A in Chinese patients with hereditary spastic paraplegia

VernacularTitle:遗传性痉挛性截瘫SPG4和SPG3A基因突变和多态分析
Author: Kun ZHAO ; Zhiying WU ; Ning WANG ; Guixian ZHAO ; Minting LIN ; Shenxing MURONG
Publication Type:Journal Article
Keywords: Spastic paraplegia,hereditary; Adenosine triphosphatases; GTP phosphohydrolases; Mutation; Polymorphism,genetic
From: Chinese Journal of Neurology 2009;42(4):253-257
CountryChina
Language:Chinese
Abstract: Objective To screen the mutation and analysis its characteristics of SPG4 and SPG3A in Chinese patients with hereditary spastic paraplegia (HSP).Methods Mutation and polymorphism of the SPG4 and SPG3A were screened in the index eases of 26 autesomal dominant families (AD-HSP) and 30 sporadic cases by combination of DHPLC and sequencing analysis, then the index cases of 26 AD-HSP were further confirmed with direct sequencing.Results One novel mutation of SPG4, 1616 + 1g→t, was identified in the index ease from an AD-HSP family.Three symptomatic patients and 2 pre-symptomatic patients were found in this family by sequencing analysis.No mutation of SPG3A was detected.In addition, 8 novel SPG4 polymorphisms and 3 novel SPG3A polymorphisms were identified.Conclusions The study has broadened the mutation and polymorphism spectrums of SPG4 and SPG3A.Mutation of these two genes is less common in this group of patients.