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目的:探讨中国维吾尔族和汉族人群中,磷酸二酯酶4D(pde4d)基因rs33395位点的多态性与缺血性脑卒中的相关性。方法:采用PCR限制性片段长度多态性(PCR-RFLP)和基因测序方法检测病例组(226例缺血性脑卒中患者,其中维吾尔族110例、汉族116例)和对照组(220例无神经系统疾病的患者,其中维吾尔族102例、汉族118例)的pde4d基因rs33395多态性。并对各组基因型分布和等位基因频率进行比较。结果:在病例组和对照组中,CT基因型分布频率最高,T等位基因分布频率高于C等位基因;但各组中,维吾尔族与汉族两民族间及同民族内部基因型和等位基因频率的分布均差异无统计学意义(P>0.05)。结论:pde4d基因rs33395可能与维吾尔族、汉族缺血性脑卒中无相关性。
Objective: To investigate the association between polymorphism of rs33395 of phosphodiesterase 4D (pde4d) gene and ischemic stroke in Chinese Uygur and Han populations. Methods: PCR-RFLP and gene sequencing methods were used to detect the cases of 226 cases of ischemic stroke (including 110 cases of Uygur and 116 cases of Han) and the control group (220 cases without Neurodegenerative diseases, including 102 cases of Uygur and 118 cases of Han), rs33395 polymorphism of pde4d gene was detected. The genotype distribution and allele frequency of each group were compared. Results: In the case group and the control group, the CT genotype had the highest frequency distribution and the T allele frequency higher than the C allele. However, among the two groups, the genotypes of both Uygur and Han ethnic groups and within the same ethnic group were equal There was no significant difference in the distribution of the gene frequencies (P> 0.05). Conclusion: rs33395 pde4d gene may not be associated with ischemic stroke in Uighur and Han nationality.