Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

被引：38

作者：

Guo, Ji-feng ^{[1
,3
]}

Zhang, Xue-wei ^{[1
]}

Nie, Li-luo ^{[1
]}

Zhang, Hai-nan ^{[1
]}

Liao, Bin ^{[1
]}

Li, Jing ^{[1
]}

Wang, Lei ^{[1
]}

Yan, Xin-xiang ^{[1
,3
]}

Tang, Bei-sha ^{[1
,2
,3
]}

机构：

[1] Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China

[2] Natl Lab Med Genet China, Changsha 410008, Hunan, Peoples R China

[3] Cent S Univ, Neurodegenerat Disorders Res Ctr, Changsha 410008, Hunan, Peoples R China

来源：

JOURNAL OF NEUROLOGY | 2010年 / 257卷 / 07期

基金：

中国国家自然科学基金;

关键词：

Parkinson's disease; Genetics; Gene mutation; Phenotype; DISEASE; COHORT; FREQUENT;

D O I：

10.1007/s00415-010-5485-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.

引用

页码：1170 / 1175

页数：6

共 21 条

[1] The role of pathogenic DJ-1 mutations in Parkinson's disease [J].

Abou-Sleiman, PM ;

Healy, DG ;

Quinn, N ;

Lees, AJ ;

Wood, NW .

ANNALS OF NEUROLOGY, 2003, 54 (03) :283-286

[2] Parkinson's disease: A genetic perspective [J].

Belin, Andrea C. ;

Westerlund, Marie .

FEBS JOURNAL, 2008, 275 (07) :1377-1383

[3] Early-onset parkinsonism associated with PINK1 mutations -: Frequency, genotypes, and phenotypes [J].

Bonifati, V ;

Rohé, CF ;

Breedveld, GJ ;

Fabrizio, E ;

De Mari, M ;

Tassorelli, C ;

Tavella, A ;

Marconi, R ;

Nicholl, DJ ;

Chien, HF ;

Fincati, E ;

Abbruzzese, G ;

Marini, P ;

De Gaetano, A ;

Horstink, MW ;

Maat-Kievit, JA ;

Sampaio, C ;

Antonini, A ;

Stocchi, F ;

Montagna, P ;

Toni, V ;

Guidi, M ;

Dalla Libera, A ;

Tinazzi, M ;

De Pandis, F ;

Fabbrini, G ;

Goldwurm, S ;

de Klein, A ;

Barbosa, E ;

Lopiano, L ;

Martignoni, E ;

Lamberti, P ;

Vanacore, N ;

Meco, G ;

Oostra, BA .

NEUROLOGY, 2005, 65 (01) :87-95

[4] Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism [J].

Bonifati, V ;

Rizzu, P ;

van Baren, MJ ;

Schaap, O ;

Breedveld, GJ ;

Krieger, E ;

Dekker, MCJ ;

Squitieri, F ;

Ibanez, P ;

Joosse, M ;

van Dongen, JW ;

Vanacore, N ;

van Swieten, JC ;

Brice, A ;

Meco, G ;

van Duijn, CM ;

Oostra, BA ;

Heutink, P .

SCIENCE, 2003, 299 (5604) :256-259

[5] Mutation Analysis of Parkin, PINK1, DJ-1 and ATP13A2 Genes in Chinese Patients with Autosomal Recessive Early-Onset Parkinsonism [J].

Guo, Ji-Feng ;

Xiao, Bin ;

Liao, Bing ;

Zhang, Xue-Wei ;

Nie, Li-Luo ;

Zhang, Yu-Hu ;

Shen, Lu ;

Jiang, Hong ;

Xia, Kun ;

Pan, Qian ;

Yan, Xin-XIang ;

Tang, Bei-Sha .

MOVEMENT DISORDERS, 2008, 23 (14) :2074-2079

[6] Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation [J].

Hague, S ;

Rogaeva, E ;

Hernandez, D ;

Gulick, C ;

Singleton, A ;

Hanson, M ;

Johnson, J ;

Weiser, R ;

Gallardo, M ;

Ravina, B ;

Gwinn-Hardy, K ;

Crawley, A ;

St George-Hyslop, PH ;

Lang, AE ;

Heutink, P ;

Bonifati, V ;

Hardy, J ;

Singleton, A .

ANNALS OF NEUROLOGY, 2003, 54 (02) :271-274

[7]

Hatano Y, 2004, NEUROLOGY, V63, P1482, DOI 10.1212/01.WNL.0000142258.29304.FE

[8] Novel PINK1 mutations in early-onset parkinsonism [J].

Hatano, Y ;

Li, YZ ;

Sato, K ;

Asakawa, S ;

Yamamura, Y ;

Tomiyama, H ;

Yoshino, H ;

Asahina, M ;

Kobayashi, S ;

Hassin-Baer, S ;

Lu, CS ;

Ng, AR ;

Rosales, RL ;

Shimizu, N ;

Toda, T ;

Mizuno, Y ;

Hattori, N .

ANNALS OF NEUROLOGY, 2004, 56 (03) :424-427

[9] Distribution, type, and origin of Parkin mutations:: Review and case studies [J].

Hedrich, K ;

Eskelson, C ;

Wilmot, B ;

Marder, K ;

Harris, J ;

Garrels, J ;

Meija-Santana, H ;

Vieregge, P ;

Jacobs, H ;

Bressman, SB ;

Lang, AE ;

Kann, M ;

Abbruzzese, G ;

Martinelli, P ;

Schwinger, E ;

Ozelius, LJ ;

Pramstaller, PP ;

Klein, C ;

Kramer, P .

MOVEMENT DISORDERS, 2004, 19 (10) :1146-1157

[10] DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease [J].

Hedrich, K ;

Djarmati, A ;

Schäfer, N ;

Hering, R ;

Wellenbrock, C ;

Weiss, PH ;

Hilker, R ;

Vieregge, P ;

Ozelius, LJ ;

Heutink, P ;

Bonifati, V ;

Schwinger, E ;

Lang, AE ;

Noth, J ;

Bressman, SB ;

Pramstaller, PP ;

Riess, O ;

Klein, C .

NEUROLOGY, 2004, 62 (03) :389-394

← 1 2 3 →