二肽基肽酶-6基因多态和散发性肌萎缩侧索硬化发病风险的相关性  

Association between DPP6 polymorphism and the risk of sporadic amyotrophic lateral sclerosis in Chinese patients

作　　者：李晓光[1] 张江鹄[1] 崔丽英[1] 刘明生[1] 谢曼青[1] 李本红[1] 赵燕环[1] 任海涛[1] 

机构地区：[1]中国医学科学院北京协和医院神经内科,100730

出　　处：《中华神经科杂志》2009年第5期332-335,共4页Chinese Journal of Neurology

摘　　要：目的探讨中国人二肽基肽酶-6（DPP6）基因中的单核苷酸多态位点rs10260404与散发性肌萎缩侧索硬化（SALS）易患性是否有关。方法来自中国汉族人群的58例患者与52名健康对照分别提取样本外周血基因组DNA，采用不对称PCR方法扩增包含目标单核苷酸多态位点在内的片段，用高分辨熔解法完成非标记探针的基因分型。结果SALS患者与健康对照之间rs10260404位点的等位基因频率（SALS组：C：12．94％，T：87．06％；健康对照组：C：10．58％，T：89．43％）差异无统计学意义（χ^2=0．29，OR=1．256，95％CI 0．549～2．872，P〉0．05）。结论我们未发现DPP6基因中rs10260404位点和中国人SALS的致病风险相关，这可能和ALS本身复杂的遗传异质性有关，但有必要进一步增加病例数以证实。Objective To investigate whether the polymorphism of rs10260404 in DPP6 gene in Chinese Han origin is associated with sporadic amyotrophie lateral sclerosis （SALS）. Methods The genomic DNA was extracted from the leukocytes of whole blood samples in 58 Chinese Han patients with SALS and 52 healthy controls. The asymmetric PCR was processed in the presence of an unlabeled probe that contained the rs10260404 locus. The product was genotyped on light scanner and some was confirmed with sequencing. Results Two single nucleotide polymorphism, rs10260404 that was reportedly consistently strongly associated with susceptibility to SALS in different populations of European and American ancestry, rs10260404 were genotyped, but not strongly associated with ALS in Chinese patients（ SALS：C：12. 94% ,T： 87.06% ;health controls： C ： 10. 58%, T： 89.43% ; χ^2 = 0. 29, OR = 1. 256,95% CI 0. 549--2. 872, P 〉 0. 05）. Conclusion The rsi0260404 is not associated with ALS susceptibility in Chinese people.

关 键 词：肌萎缩侧索硬化 神经组织蛋白质类 肽水解酶类 钾通道 多态性 单核苷酸 中国 

分 类 号：R686[医药卫生—骨科学]