CAJ | 학술논문

目的筛查并分析遗传性痉挛性截瘫(HSP)SPG4和SPG3A基因突变,了解中国人群这2个基因的突变特点.方法联合应用变性高效液相色谱分析(DHPLC)和DNA序列分析方法对24例常染色体显性遗传的HSP(AD-HSP)家系的先证者和32例散发性HSP患者进行SPG4和SPG3A基因突变筛查,对24例AD-HSP家系的先证者进一步直接测序筛查这2个基因的突变.结果在1个AD-HSP家系中发现1个位于SPG4基因上的新犁突变1616+1g→t杂合突变.在此家系中,共发现了3例现症患者和2例症状前患者.本组病例未检出SPG3A基因突变.此外,共发现了8种新的SPG4多态和3种新的SPG3A多态.结论本组检测结果丰富了SPG4和SPG3A基因的突变和多态库.这2个基因突变在本组病例中较少见,需要继续分析其他基因.
목적 사사병분석유전성경련성절탄(HSP)SPG4화SPG3A기인돌변,료해중국인군저2개기인적돌변특점.방법 연합응용변성고효액상색보분석(DHPLC)화DNA서렬분석방법대24례상염색체현성유전적HSP(AD-HSP)가계적선증자화32례산발성HSP환자진행SPG4화SPG3A기인돌변사사,대24례AD-HSP가계적선증자진일보직접측서사사저2개기인적돌변.결과 재1개AD-HSP가계중발현1개위우SPG4기인상적신리돌변1616+1g→t잡합돌변.재차가계중,공발현료3례현증환자화2례증상전환자.본조병례미검출SPG3A기인돌변.차외,공발현료8충신적SPG4다태화3충신적SPG3A다태.결론 본조검측결과 봉부료SPG4화SPG3A기인적돌변화다태고.저2개기인돌변재본조병례중교소견,수요계속분석기타기인.
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.