中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2013年
10期
655-658
,共4页
蔡苗%殷鑫桢%欧阳志远%张宝荣
蔡苗%慇鑫楨%歐暘誌遠%張寶榮
채묘%은흠정%구양지원%장보영
帕金森病%癌基因蛋白质类%细胞内信号肽和蛋白质类%突变%启动区(遗传学)%多态现象,遗传
帕金森病%癌基因蛋白質類%細胞內信號肽和蛋白質類%突變%啟動區(遺傳學)%多態現象,遺傳
파금삼병%암기인단백질류%세포내신호태화단백질류%돌변%계동구(유전학)%다태현상,유전
Parkinson disease%Oncogene proteins%Intracellular signaling peptides and proteins%Mutation%Promoter regions (genetics)%Polymorphism,genetic
目的 探讨在早发型帕金森病患者(early-onset Parkinson's disease,EOPD)中DJ-1基因的突变情况,并分析1号内含子上g.168_185del多态类型是否与帕金森病的发生有关.方法 应用聚合酶链反应(PCR)结合直接测序法对90例EOPD患者进行DJ-1基因7个外显子突变分析.针对1号内含子的g.168_185del多态性,比较EOPD患者与健康人的基因型频率及等位基因频率是否存在差异.结果 (1)在90例EOPD患者中没有筛查出DJ-1基因的致病性突变,但发现位于1号外显子上g.5027G＞A(rs17523802)、g.5065T＞C(rs226249)、g.5094C ＞T (rs11121064)及位于1号内含子的g.168 185del 4种多态类型.(2)针对g.168_185del分析,EOPD组与健康对照组插入/缺失频率分别为11.1％ (10/90)和13.3％(14/105),插入/插入频率分别为88.9％(80/90)和86.7％(91/105),比较基因型频率x2值为0.222,P值为0.669；EOPD组与对照组插入型频率分别为94.4％(170/180)和93.3％ (196/210),缺失型频率分别为5.6％ (10/180)和6.7％ (14/210),比较等位基因频率x2值为0.207,P值为0.679；家族性EOPD组与对照组间基因型频率及等位基因频率,散发性EOPD组与对照组间基因型频率及等位基因频率差异均无统计学意义.结论 本组EOPD患者中DJ-1基因的突变率较低,不是常见致病因素；g.168_185del多态位点与EOPD患者可能无直接致病关系.
目的 探討在早髮型帕金森病患者(early-onset Parkinson's disease,EOPD)中DJ-1基因的突變情況,併分析1號內含子上g.168_185del多態類型是否與帕金森病的髮生有關.方法 應用聚閤酶鏈反應(PCR)結閤直接測序法對90例EOPD患者進行DJ-1基因7箇外顯子突變分析.針對1號內含子的g.168_185del多態性,比較EOPD患者與健康人的基因型頻率及等位基因頻率是否存在差異.結果 (1)在90例EOPD患者中沒有篩查齣DJ-1基因的緻病性突變,但髮現位于1號外顯子上g.5027G＞A(rs17523802)、g.5065T＞C(rs226249)、g.5094C ＞T (rs11121064)及位于1號內含子的g.168 185del 4種多態類型.(2)針對g.168_185del分析,EOPD組與健康對照組插入/缺失頻率分彆為11.1％ (10/90)和13.3％(14/105),插入/插入頻率分彆為88.9％(80/90)和86.7％(91/105),比較基因型頻率x2值為0.222,P值為0.669；EOPD組與對照組插入型頻率分彆為94.4％(170/180)和93.3％ (196/210),缺失型頻率分彆為5.6％ (10/180)和6.7％ (14/210),比較等位基因頻率x2值為0.207,P值為0.679；傢族性EOPD組與對照組間基因型頻率及等位基因頻率,散髮性EOPD組與對照組間基因型頻率及等位基因頻率差異均無統計學意義.結論 本組EOPD患者中DJ-1基因的突變率較低,不是常見緻病因素；g.168_185del多態位點與EOPD患者可能無直接緻病關繫.
목적 탐토재조발형파금삼병환자(early-onset Parkinson's disease,EOPD)중DJ-1기인적돌변정황,병분석1호내함자상g.168_185del다태류형시부여파금삼병적발생유관.방법 응용취합매련반응(PCR)결합직접측서법대90례EOPD환자진행DJ-1기인7개외현자돌변분석.침대1호내함자적g.168_185del다태성,비교EOPD환자여건강인적기인형빈솔급등위기인빈솔시부존재차이.결과 (1)재90례EOPD환자중몰유사사출DJ-1기인적치병성돌변,단발현위우1호외현자상g.5027G＞A(rs17523802)、g.5065T＞C(rs226249)、g.5094C ＞T (rs11121064)급위우1호내함자적g.168 185del 4충다태류형.(2)침대g.168_185del분석,EOPD조여건강대조조삽입/결실빈솔분별위11.1％ (10/90)화13.3％(14/105),삽입/삽입빈솔분별위88.9％(80/90)화86.7％(91/105),비교기인형빈솔x2치위0.222,P치위0.669；EOPD조여대조조삽입형빈솔분별위94.4％(170/180)화93.3％ (196/210),결실형빈솔분별위5.6％ (10/180)화6.7％ (14/210),비교등위기인빈솔x2치위0.207,P치위0.679；가족성EOPD조여대조조간기인형빈솔급등위기인빈솔,산발성EOPD조여대조조간기인형빈솔급등위기인빈솔차이균무통계학의의.결론 본조EOPD환자중DJ-1기인적돌변솔교저,불시상견치병인소；g.168_185del다태위점여EOPD환자가능무직접치병관계.
Objective To evaluate the prevalence of the DJ-1 mutation in early-onset Parkinson's disease (EOPD) patients,and analyzed the association between the certain polymorphic marker g.168_185del in intron1 and Parkinson' s disease (PD).Methods We screened all 7 exons and exon-intron boundary regions of DJ-1 by PCR and direct nucleotide sequencing in 90 Chinese patients with EOPD.We also compared the allele and genotype frequencies of the g.168_185del polymorphism between EOPD patients and controls.Results We found no causative DJ-1 mutations in our cohort of Chinese EOPD patients.But we did identified 4 known polymorphic variants,including the g.168_185del in intron 1,g.5027G ＞ A (rs17523802),g.5065T ＞ C (rs226249),and g.5094C ＞ T (rs11121064) within exon 1.Del/Ins frequencies of the g.168_185 del polymorphism were 11.1％ (10/90)and 13.3％ (14/105) in EOPD group and normal group,respectively.Ins/Ins frequencies were 88.9％ (80/90) and 86.7％ (91/105),thex2 and P value of genotype frequency were 0.222 and 0.669 between EOPD patients and controls,respectively.The insert frequencies were 94.4％ (170/180)and 93.3％ (196/210) in EOPD patients and controls,the deletion frequencies were 5.6％ (10/180) and 6.7％ (14/210),thex2 and P value of allele frequency were 0.207 and 0.679 between EOPD patients and normal,respectively.Furthermore,the P value of genotype and allele frequencies were 0.736 and 0.744 between familial EOPD patients and controls,respectively;P values of genotype and allele frequencies were 0.847 and 0.852 between sporadic EOPD patients and control group,respectively.There was no statistical difference between groups.Conclusion Mutations in DJ-1 are uncommon in Chinese EOPD patients,and no association is observed between the DJ-1 intron 1 g.168_185del polymorphism and risk of PD.
