新疆维吾尔族、汉族帕金森病PARK16基因多态性研究
发布时间：2018-11-23 18:17
【摘要】：目的：探讨PARK16基因rs947211和rs823144位点多态性与新疆维族和汉族PD的关系,明确两民族在rs947211和rs823144位点多态性分布上是否存在差异。方法：应用PCR聚合酶链反应和DNA测序法对441例临床确诊的PD患者(汉族260例,维族181例)和495例同民族无PD的健康体检者(汉族287,维族208)进行基因分型。结果：(1)rs947211位点在汉族PD组和汉族对照组基因型和等位基因频率比较差异有统计学意义(z2=8.931,P=0.011和χ2=7.865,P=0.005),G等位基因的汉族携带个体发生PD的风险大于汉族未携带者(OR=1.407,95%CI.1.108-1.788)；维族PD组和维族对照组基因型和等位基因频率比较差异有统计学意义(χ2=8.100,P=0.017和z2=7.117,P=0.008),G等位基因维族携带个体发生PD的风险大于同民族未携带者(OR=OR=1.471,95%CI.1.107-1.955)；汉族PD组和维族PD组基因型和等位基因频率比较差异没有统计学意义(χ2=0.053,P=0.974和χ2=0.013,P=0.911)。(2)rs823144位点在汉族PD组和汉族对照组、维族PD组和维族对照组以及汉族PD组和维族PD组基因型和等位基因频率的比较,差异均没有统计学意义(χ2=1.519,P=0.468和χ2=1.592,P=0.207；χ2=0.325,P=0.850和χ2=0.173,P=0.678；z2=2.173,P=0.337和z2=2.315,P=0.128)。结论：PARK16基因rs947211多态性与新疆维吾尔族和汉族PD的发生有关,G等位基因可能是PD遗传易感性的基因标记之一,但是在维族PD和汉族PD间不存在显著差异；rs823144可能与新疆维吾尔族和汉族PD的发生均无明显相关。
[Abstract]:Objective: to investigate the relationship between the polymorphism of rs947211 and rs823144 loci of PARK16 gene and PD of Uygur nationality and Han nationality in Xinjiang, and to determine whether there are differences in the distribution of rs947211 and rs823144 loci between the two populations. Methods: PCR polymerase chain reaction and DNA sequencing were used to type 441 patients with PD (260 cases of Han nationality and 181 cases of Uygur nationality) and 495 healthy controls without PD (Han 287, Uygur 208). Results: (1) there were significant differences in genotype and allele frequency of rs947211 locus between PD group of Han nationality and control group of Han nationality. The risk of PD in G allele carriers was higher than that in non-carriers (OR=1.407,95%CI.1.108-1.788). There were significant differences in genotype and allele frequency between Uygur PD group and Uygur nationality control group (蠂 ~ 2 + 8.100) (蠂 ~ (2) = 8.100) and Z ~ (2 +) ~ (7.117) (P ~ (0. 008). G alleles were more likely to develop PD in Uighur carriers than non-carriers (OR=1.471,95%CI.1.107-1.955) of the same ethnic group. There was no significant difference in genotype and allele frequency between Han PD group and Uygur PD group (蠂 ~ 2 / 0. 053 / P ~ (0.974) and 蠂 ~ (2 +) ~ (0.013) P ~ (0.911). (_ 2) rs823144 locus in PD group and control group of Han nationality. There was no significant difference in genotype and allele frequency between Uygur PD group and Uygur control group, as well as between Han PD group and Uygur PD group (蠂 ~ (2) ~ (2) ~ (1) 1. 19% P ~ (0.68) and 蠂 ~ (2 +) ~ (1.592) P ~ (0.207); 蠂 ~ 2 ~ (2) ~ (0.325) ~ 0.850 and 蠂 ~ (2 +) ~ (0.173) P ~ (0.678) ~ (2.173) ~ (0.337) ~ (0.337) and ~ (2) ~ (2) ~ (2) ~ (3) ~ (15) ~ (1) ~ (0.128). Conclusion: the rs947211 polymorphism of PARK16 gene is associated with the occurrence of PD in Xinjiang Uygur and Han nationality. G allele may be one of the genetic markers of PD genetic susceptibility, but there is no significant difference between PD and PD in Uygur nationality. Rs823144 may not be associated with the occurrence of PD in Xinjiang Uygur and Han nationalities.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.5
本文编号：2352347
[Abstract]:Objective: to investigate the relationship between the polymorphism of rs947211 and rs823144 loci of PARK16 gene and PD of Uygur nationality and Han nationality in Xinjiang, and to determine whether there are differences in the distribution of rs947211 and rs823144 loci between the two populations. Methods: PCR polymerase chain reaction and DNA sequencing were used to type 441 patients with PD (260 cases of Han nationality and 181 cases of Uygur nationality) and 495 healthy controls without PD (Han 287, Uygur 208). Results: (1) there were significant differences in genotype and allele frequency of rs947211 locus between PD group of Han nationality and control group of Han nationality. The risk of PD in G allele carriers was higher than that in non-carriers (OR=1.407,95%CI.1.108-1.788). There were significant differences in genotype and allele frequency between Uygur PD group and Uygur nationality control group (蠂 ~ 2 + 8.100) (蠂 ~ (2) = 8.100) and Z ~ (2 +) ~ (7.117) (P ~ (0. 008). G alleles were more likely to develop PD in Uighur carriers than non-carriers (OR=1.471,95%CI.1.107-1.955) of the same ethnic group. There was no significant difference in genotype and allele frequency between Han PD group and Uygur PD group (蠂 ~ 2 / 0. 053 / P ~ (0.974) and 蠂 ~ (2 +) ~ (0.013) P ~ (0.911). (_ 2) rs823144 locus in PD group and control group of Han nationality. There was no significant difference in genotype and allele frequency between Uygur PD group and Uygur control group, as well as between Han PD group and Uygur PD group (蠂 ~ (2) ~ (2) ~ (1) 1. 19% P ~ (0.68) and 蠂 ~ (2 +) ~ (1.592) P ~ (0.207); 蠂 ~ 2 ~ (2) ~ (0.325) ~ 0.850 and 蠂 ~ (2 +) ~ (0.173) P ~ (0.678) ~ (2.173) ~ (0.337) ~ (0.337) and ~ (2) ~ (2) ~ (2) ~ (3) ~ (15) ~ (1) ~ (0.128). Conclusion: the rs947211 polymorphism of PARK16 gene is associated with the occurrence of PD in Xinjiang Uygur and Han nationality. G allele may be one of the genetic markers of PD genetic susceptibility, but there is no significant difference between PD and PD in Uygur nationality. Rs823144 may not be associated with the occurrence of PD in Xinjiang Uygur and Han nationalities.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.5
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