CAJ | 학술논문

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(χ2=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.
목적 탐토중국인이태기태매-6(DPP6)기인중적단핵감산다태위점rs10260404여산발성기위축측색경화(SALS)역환성시부유관.방법 래자중국한족인군적58례환자여52명건강대조분별제취양본외주혈기인조DNA,채용불대칭PCR방법확증포함목표단핵감산다태위점재내적편단,용고분변용해법완성비표기탐침적기인분형.결과 SALS환자여건강대조지간rs10260404위점적등위기인빈솔(SALS조:C:12.94%,T:87.06%;건강대조조:C:10.58%,T:89.43%)차이무통계학의의(χ2=0.29,OR=1.256,95% CI 0.549～2.872,P>0.05).결론 아문미발현DPP6기인중rs10260404위점화중국인SALS적치병풍험상관,저가능화ALS본신복잡적유전이질성유관,단유필요진일보증가병례수이증실.
Objective To investigate whether the polymorphism of rs10260404 in DPP6 gene in Chinese Han origin is associated with sporadic amyotrophic 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%;χ2=0.29,OR=1.256,95%CI 0.549-2.872, P>0.05). Conclusion The rs10260404 is not associated with ALS susceptibility in Chinese people.