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目的分析CYP2E15’侧翼区的PstI/RsaI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。
Objective To analyze the polymorphism of PstI / RsaI in the flanking region of CYP2E15 ’and to explore the relationship between the polymorphism and genetic susceptibility to sporadic amyotrophic lateral sclerosis (SALS). Methods The PCR-RFLP method was used to analyze the genetic polymorphism of 104 SALS patients and 242 matched normal controls. Results The frequency of c1c2 heterozygote and c2 allele in SALS patients was higher than that in control group, but there was no statistically significant difference. After the subjects were grouped by gender, the frequency of heterozygous c1c2 in male patients than in the control group were significantly different. With increasing diagnostic confidence, there was further statistical difference in the frequency of c1c2 heterozygosity in men with amyotrophic lateral sclerosis (ALS) who had motor neurons in two or more regions. Conclusion The c2 allele may be a risk factor for ALS in men. The pathogenesis of SALS may be related to the increased endogenous toxicity and its in situ damage caused by CYP2E1 polymorphism.