【摘要】：目的：探討PARK16基因rs947211和rs823144位點(diǎn)多態(tài)性與新疆維族和漢族PD的關(guān)系,明確兩民族在rs947211和rs823144位點(diǎn)多態(tài)性分布上是否存在差異。方法：應(yīng)用PCR聚合酶鏈反應(yīng)和DNA測(cè)序法對(duì)441例臨床確診的PD患者(漢族260例,維族181例)和495例同民族無PD的健康體檢者(漢族287,維族208)進(jìn)行基因分型。結(jié)果：(1)rs947211位點(diǎn)在漢族PD組和漢族對(duì)照組基因型和等位基因頻率比較差異有統(tǒng)計(jì)學(xué)意義(z2=8.931,P=0.011和χ2=7.865,P=0.005),G等位基因的漢族攜帶個(gè)體發(fā)生PD的風(fēng)險(xiǎn)大于漢族未攜帶者(OR=1.407,95%CI.1.108-1.788)；維族PD組和維族對(duì)照組基因型和等位基因頻率比較差異有統(tǒng)計(jì)學(xué)意義(χ2=8.100,P=0.017和z2=7.117,P=0.008),G等位基因維族攜帶個(gè)體發(fā)生PD的風(fēng)險(xiǎn)大于同民族未攜帶者(OR=OR=1.471,95%CI.1.107-1.955)；漢族PD組和維族PD組基因型和等位基因頻率比較差異沒有統(tǒng)計(jì)學(xué)意義(χ2=0.053,P=0.974和χ2=0.013,P=0.911)。(2)rs823144位點(diǎn)在漢族PD組和漢族對(duì)照組、維族PD組和維族對(duì)照組以及漢族PD組和維族PD組基因型和等位基因頻率的比較,差異均沒有統(tǒng)計(jì)學(xué)意義(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)。結(jié)論：PARK16基因rs947211多態(tài)性與新疆維吾爾族和漢族PD的發(fā)生有關(guān),G等位基因可能是PD遺傳易感性的基因標(biāo)記之一,但是在維族PD和漢族PD間不存在顯著差異；rs823144可能與新疆維吾爾族和漢族PD的發(fā)生均無明顯相關(guān)。
[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.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R742.5

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