设为首页收藏本站

帕金森病友之家

 找回密码
 立即注册
搜索

Parkin基因的多态性与帕金森病的遗传易感性

2003-9-23 09:56| 发布者: admin| 查看: 3933| 评论: 1|原作者: admin|来自: Arch Neurol. 2003 Sep;60(9):1253-6.

摘要: Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.Lucking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, ...
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.

Lucking CB, Chesneau V, Lohmann E, Verpillat P, Dulac C, Bonnet AM, Gasparini F, Agid Y, Durr A, Brice A.

Institut National de la Sante et de la Recherche Medicale, Unit 289, Hopital de la Salpetriere, Assistance Publique-Hopitaux de Paris, France.

BACKGROUND: Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory. PATIENTS: We compared the allele and genotype frequencies of the Ser167Asn, Arg366Trp, Val380Leu, and Asp394Asn polymorphisms in 194 patients with PD (92 familial and 102 sporadic) and 125 control subjects. RESULTS: Homozygous Val380 was significantly associated with sporadic PD (P =.008). There was also a trend toward an association of homozygous Asp394 with familial PD (P =.07). CONCLUSIONS: Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.


路过

雷人

握手

鲜花

鸡蛋
发表评论

最新评论

引用 游客 2004-2-29 18:29
请求帮助治疗帕金森那种方法好

查看全部评论(1)

验证问答 换一个 验证码 换一个

Archiver|帕金森病友之家 ( 粤ICP备10231723号 )  

GMT+8, 2024-3-29 18:50 , Processed in 0.078997 second(s), 13 queries .

Powered by Discuz! X2.5

© 2001-2012 Comsenz Inc.

回顶部