You Position: Home > Paper
Possible association between polymorphisms in 5' -flanking region of CYP2E1 gene and sporadic amyotrophic lateral sclerosis in male patients
( views:247, downloads:20 )
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF NEUROMEDICINE
- Issue:
- 12
- DOI:
- 10.3760/cma.j.issn.1671-8925.2005.12.003
- Key Word:
- 细胞色素P450 2E1;基因多态性;散发性;肌萎缩侧索硬化症;遗传易感性
Abstract： 目的分析CYP2E1 5'侧翼区的Pst Ⅰ/Rsa Ⅰ多态性,探讨该多态性与散发性肌萎缩侧索硬化(SALS)遗传易感性的关系.方法利用PCR-RFLP的方法,对104例SALS患者及性别与年龄匹配的242例正常对照行基因多态性分析.结果SALS患者的c1c2杂合子和c2等位基因的频率比对照组有增高趋势,但统计学上均无显著性差异.将研究对象按性别分组后,c1c2杂合子的频率在男性患者中比对照组有显著性差异.随着诊断信度的提高,2个及以上区域的运动神经元受损的男性肌萎缩侧索硬化(ALS)患者,其c1c2杂合子的频率有了进一步的统计学差异.结论c2等位基因可能是男性罹患ALS的一个危险因素.SALS的发病与CYP2E1多态性导致的内源性增毒及其原位损伤可能有关.
- [1]樊东升.肌萎缩侧索硬化的临床诊断研究进展[J].2001,(12).
- [2]樊东升.第17届世界神经病学大会肌萎缩侧索硬化专题纪要[J].2002,(2).
- [3]Crkovska J,Mikulikova L,Mestek O,etc.Oxidative stress, metabolism of ethanol and alcohol-related diseases.[J].2001,8(1).
- [4]Andrew G. Riedl,Paul M. Watts,Peter Jenner,etc.P450 enzymes and Parkinson's disease: The story so far[J].1998,13(2).
- [5]Murray GI,McFayden MC,Melvin WT.Regional distribution of individual forms of cytochrome P450 mRNA in normal adult human brain.[J].1998,55(6).
- [6]Shin-ichi Hayashi,Junko Watanabe,Kaname Kawajiri.Genetic Polymorphisms in the 5′-Flanking Region Change Transcriptional Regulation of the Human Cytochrome P450IIE1 Gene[J].1991,110(4).
- [7]Boyd MR,Ravindranath V,Shankar SK,etc.Cytochrome P450 and associated monooxygenase activities in the rat and human spinal cord: induction, immunological characterization and immunocytochemical localization.[J].1995,68(2).
- [8]N P, Kennedy,K F, Tipton.Ethanol metabolism and alcoholic liver disease.[J].1990,25.