中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2010年
10期
692-696
,共5页
聂利珞%郭纪锋%张海南%张学伟%王磊%罗林紫%沈璐%江泓%夏昆%唐北沙%严新翔
聶利珞%郭紀鋒%張海南%張學偉%王磊%囉林紫%瀋璐%江泓%夏昆%唐北沙%嚴新翔
섭리락%곽기봉%장해남%장학위%왕뢰%라림자%침로%강홍%하곤%당북사%엄신상
帕金森障碍%泛素蛋白连接酶类%有机化学品%聚合酶链反应%突变
帕金森障礙%汎素蛋白連接酶類%有機化學品%聚閤酶鏈反應%突變
파금삼장애%범소단백련접매류%유궤화학품%취합매련반응%돌변
Parkinsonian%Ubiquitin-protein ligases%Organic chemicals%Polymerase chain reaction%Mutation
目的 探讨中国南方汉族散发早发性帕金森综合征(early onset parkinsonism,EOP)的parkin基因突变特点.方法 应用实时荧光定量PCR技术结合DNA直接测序技术对156例中国南方汉族散发EOP患者进行parkin基因突变分析.结果 19例患者parkin基因突变,包括15例杂合突变、2例纯合突变、2例复杂杂合突变.17例患者外显子重排突变,其中12例外显子缺失突变,5例外显子双重重复突变.此外,3例患者存在点突变和(或)小片段缺失突变,其中ⅣS9+18C＞T、c.202-203delAG为已报道突变,c.813delT为未报道的新突变;parkin基因突变位点主要分布在其1～7号外显子.无parkin基因突变与有parkin基因突变的患者在临床表现及病情严重程度方面差异无统计学意义,但发病年龄[(40.9±6.8)岁与(35.5±10.0)岁,Z=-2.271,P=0.023)]、病程[(4.4±3.6)年与(7.6±4.0)年,Z=-3.680,P=0.000)]等方面差异有统计学意义.结论 中国南方汉族散发EOP患者parkin基因突变的频率为12.18%(19/156),外显子重排突变是其重要突变类型;外显子缺失突变是主要的突变形式;parkin基因1～7号外显子为突变热点.parkin基因突变与无parkin基因突变的EOP患者在临床表型上无明显差异,但其发病年龄较轻,病程较长,进展较缓慢.
目的 探討中國南方漢族散髮早髮性帕金森綜閤徵(early onset parkinsonism,EOP)的parkin基因突變特點.方法 應用實時熒光定量PCR技術結閤DNA直接測序技術對156例中國南方漢族散髮EOP患者進行parkin基因突變分析.結果 19例患者parkin基因突變,包括15例雜閤突變、2例純閤突變、2例複雜雜閤突變.17例患者外顯子重排突變,其中12例外顯子缺失突變,5例外顯子雙重重複突變.此外,3例患者存在點突變和(或)小片段缺失突變,其中ⅣS9+18C＞T、c.202-203delAG為已報道突變,c.813delT為未報道的新突變;parkin基因突變位點主要分佈在其1～7號外顯子.無parkin基因突變與有parkin基因突變的患者在臨床錶現及病情嚴重程度方麵差異無統計學意義,但髮病年齡[(40.9±6.8)歲與(35.5±10.0)歲,Z=-2.271,P=0.023)]、病程[(4.4±3.6)年與(7.6±4.0)年,Z=-3.680,P=0.000)]等方麵差異有統計學意義.結論 中國南方漢族散髮EOP患者parkin基因突變的頻率為12.18%(19/156),外顯子重排突變是其重要突變類型;外顯子缺失突變是主要的突變形式;parkin基因1～7號外顯子為突變熱點.parkin基因突變與無parkin基因突變的EOP患者在臨床錶型上無明顯差異,但其髮病年齡較輕,病程較長,進展較緩慢.
목적 탐토중국남방한족산발조발성파금삼종합정(early onset parkinsonism,EOP)적parkin기인돌변특점.방법 응용실시형광정량PCR기술결합DNA직접측서기술대156례중국남방한족산발EOP환자진행parkin기인돌변분석.결과 19례환자parkin기인돌변,포괄15례잡합돌변、2례순합돌변、2례복잡잡합돌변.17례환자외현자중배돌변,기중12예외현자결실돌변,5예외현자쌍중중복돌변.차외,3례환자존재점돌변화(혹)소편단결실돌변,기중ⅣS9+18C＞T、c.202-203delAG위이보도돌변,c.813delT위미보도적신돌변;parkin기인돌변위점주요분포재기1～7호외현자.무parkin기인돌변여유parkin기인돌변적환자재림상표현급병정엄중정도방면차이무통계학의의,단발병년령[(40.9±6.8)세여(35.5±10.0)세,Z=-2.271,P=0.023)]、병정[(4.4±3.6)년여(7.6±4.0)년,Z=-3.680,P=0.000)]등방면차이유통계학의의.결론 중국남방한족산발EOP환자parkin기인돌변적빈솔위12.18%(19/156),외현자중배돌변시기중요돌변류형;외현자결실돌변시주요적돌변형식;parkin기인1～7호외현자위돌변열점.parkin기인돌변여무parkin기인돌변적EOP환자재림상표형상무명현차이,단기발병년령교경,병정교장,진전교완만.
Objective To investigate the spectrum and features of parkin gene mutations in Chinese patients with sporadic early-onset Parkinsonism (EOP) in southern China.Methods All 156 Han Chinese patients with sporadic EOP were screened for mutations in parkin gene using SYBR Green Ⅰ Real-time PGR combined with sequencing of the entire coding region of the gene.Results Nineteen cases carried parkin mutations, including 2 homozygous, 2 compound heterozygous and 15 heterozygous mutations.Seventeen parkin gene rearrangement mutations ( 12 exon deletions and 5 exon duplications) and three small sequence mutations (ⅣS9 + 18C ＞ T,c.202-203delAG and c.813delT) were identified.The c.813delT is a novel mutation.The segment between exon 1 and 7 are mutational hot spot.Cases with parkin mutations showed no difference in initial symptoms, cardinal symptoms and disease severity, compared with cases without parkin mutations.But patients with parkin mutations showed significant earlier onset age ( ( 40.9 ± 6.8 ) years vs (35.5 ± 10.0) years, Z = -2.271, P ＜0.05) and longer disease duration ( (4.4 ±3.6) years vs (7.6 ±4.0) years,Z = - 3.680, P ＜ 0.05 ) than those without parkin mutation.Conclusions The frequency of parkin gene mutation was 12.18% in Han Chinese patients with sporadic EOP.Rearrangement mutation may be the predominant type of mutations.The exon deletion is a main mutation style.The sequence fragment between exon 1 and 7 of the parkin gene are mutational hot spots.There were no significant differences in clinical features between cases with parkin mutation and those without.However, our patient with parkin mutations showed a significantly earlier onset age, longer disease duration and slower progression than those without parkin mutation.
