ATP1B4和FBXO42基因与中国汉族帕金森病的相关性研究
发布时间：2018-11-11 18:46
【摘要】：目的：系统的检测中国汉族帕金森病(Parkinson's disease, PD)患者ATP1B4(the ATPase Na+/K+transporting beta4polypeptide gene)基因全部编码区的所有变异,分析这些变异的基因型和等位基因频率在中国汉族PD患者组和正常对照组之间分布是否有差异,明确ATP1B4与中国汉族PD发病的相关性。 方法：首先对100例PD患者的ATP1B4基因全部编码区及部分非编码区用聚合酶链式反应-单链构象多态性(Polymerase chain reaction-single strand conformation polymorphism, PCR-SSCP)结合测序的方法进行筛查并确定变异类型。然后用统计学方法分析已发现变异的基因型与等位基因频率在202例PD患者组及400例与患者匹配的正常对照组间的分布差异。 结果：由于ATP1B4基因位于X染色体上,统计学分析时将男女分开统计。筛查100例PD患者发现一个变异rs2072452(c.143TC),统计学分析发现该变异的基因频率、等位基因频率在100例女性PD患者和200例女性对照间,102例男性患者和200例男性对照之间的分布均无统计学差异。 结论：ATP1B4基因编码区的变异与中国汉族PD的发病无关。 目的：筛查中国汉族帕金森病(Parkinson's disease, PD)患者FBXO42(F-box protein42gene)基因全部编码区的所有变异,分析中国汉族PD患者组和正常对照组之间这些变异的基因频率和等位基因频率分布是否有差异,确定FBXO42与中国汉族PD发病的相关性。 方法：首先对151例PD患者的FBXO42基因全部编码区及部分非编码区用聚合酶链式反应-单链构象多态性(Polymerase chain reaction-single strand conformation polymorphism, PCR-SSCP)结合测序的方法进行筛查并确定变异类型。然后用统计学方法分析已发现变异的基因频率与等位基因频率在316例PD患者(包括之前的151例)及295例与患者匹配(按性别,年龄及地域进行匹配)的正常对照组间的分布差异,并对发现的多个变异进行单体型分析。 结果：1.对FBXO42基因检测发现患者组和对照组存在三个变异(rs2273311,rs12069239和rs35196193),此外,在一名散发PD患者中发现一个新的TC碱基替换c.1407TC。在线预测发现四个变异均不改变剪接位点。2.统计分析发现三个变异(rs2273311, rs12069239和rs35196193)的基因频率及等位基因频率在316例PD患者和295例正常对照之间的分布无统计学差异。3.单倍体分析发现FBXO42基因的 个常见单体型G-C-G (rs2273311-rs12069239-rs35196193)与中国汉族PD的发病相关(P=0.002, OR=1.69,95%CI=1.06-2.71),进行Bonferroni校正后仍有统计学意义(P=0.008)。结论：虽然FBXO42基因的编码区变异可能与中国汉族PD发病无关,但FBXO42基因的单体型(G-C-G)可能使PD的发病风险增高。
[Abstract]:Objective: to detect all mutations of ATP1B4 (the ATPase Na / K transporting beta4polypeptide gene in Chinese Han patients with Parkinson's disease (Parkinson's disease, PD). To analyze the difference of genotype and allele frequency between Chinese Han PD patients and normal controls, and to determine the correlation between ATP1B4 and PD in Han nationality. Methods: all and part of the coding regions of ATP1B4 gene in 100 patients with PD were screened by polymerase chain reaction-single strand conformation polymorphism (SSCP) (Polymerase chain reaction-single strand conformation polymorphism, PCR-SSCP combined with sequencing and the type of variation was determined. The frequency of alleles and genotypes in 202 PD patients and 400 matched normal controls were analyzed by statistical method. Results: because the ATP1B4 gene was located on X chromosome, the male and female were separated by statistical analysis. A variant of rs2072452 (c.143TC) was found in the screening of 100 patients with PD. The allele frequency and allele frequency of the mutation were found in 100 female PD patients and 200 female controls by statistical analysis. There was no significant difference in distribution between 102 male patients and 200 male controls. Conclusion: the variation of ATP1B4 gene coding region is not related to the pathogenesis of PD in Han nationality. Objective: to screen all mutations in the whole coding region of FBXO42 (F-box protein42gene) gene in patients with Parkinson's disease (Parkinson's disease, PD) in Chinese Han nationality. To determine the relationship between FBXO42 and PD in Han nationality, we analyzed whether there were differences in the distribution of allele frequencies and gene frequencies between Chinese Han PD patients and normal controls. Methods: all and part of the coding regions of FBXO42 gene in 151 patients with PD were screened by polymerase chain reaction-single strand conformation polymorphism (SSCP) (Polymerase chain reaction-single strand conformation polymorphism, PCR-SSCP combined with sequencing and the type of variation was determined. Then statistical analysis was used to analyze the frequency of alleles and alleles found in 316 PD patients (including the previous 151 cases) and 295 matched patients (by sex). Age and region matching were used to analyze the distribution and haplotype of multiple variations found in normal controls. Results: 1. Three mutations (rs2273311,rs12069239 and rs35196193) were found in the FBXO42 gene group and the control group. In addition, a new TC base replacement c.1407TCwas found in a sporadic PD patient. Online prediction found that none of the four variants changed splicing sites. 2. 2. Statistical analysis showed that there was no significant difference in the distribution of gene frequencies and alleles between 316 PD patients and 295 normal controls (rs2273311, rs12069239 and rs35196193). Haploid analysis showed that G-C-G (rs2273311-rs12069239-rs35196193), a common haplotype of FBXO42 gene, was associated with PD in Han nationality (P0. 002, OR=1.69,95%CI=1.06-2.71). There was statistical significance after Bonferroni correction (P0. 008). Conclusion: although the variation of the coding region of FBXO42 gene may not be associated with the pathogenesis of PD in Chinese Han nationality, the haplotype (G-C-G) of FBXO42 gene may increase the risk of PD.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.5
本文编号：2325782
[Abstract]:Objective: to detect all mutations of ATP1B4 (the ATPase Na / K transporting beta4polypeptide gene in Chinese Han patients with Parkinson's disease (Parkinson's disease, PD). To analyze the difference of genotype and allele frequency between Chinese Han PD patients and normal controls, and to determine the correlation between ATP1B4 and PD in Han nationality. Methods: all and part of the coding regions of ATP1B4 gene in 100 patients with PD were screened by polymerase chain reaction-single strand conformation polymorphism (SSCP) (Polymerase chain reaction-single strand conformation polymorphism, PCR-SSCP combined with sequencing and the type of variation was determined. The frequency of alleles and genotypes in 202 PD patients and 400 matched normal controls were analyzed by statistical method. Results: because the ATP1B4 gene was located on X chromosome, the male and female were separated by statistical analysis. A variant of rs2072452 (c.143TC) was found in the screening of 100 patients with PD. The allele frequency and allele frequency of the mutation were found in 100 female PD patients and 200 female controls by statistical analysis. There was no significant difference in distribution between 102 male patients and 200 male controls. Conclusion: the variation of ATP1B4 gene coding region is not related to the pathogenesis of PD in Han nationality. Objective: to screen all mutations in the whole coding region of FBXO42 (F-box protein42gene) gene in patients with Parkinson's disease (Parkinson's disease, PD) in Chinese Han nationality. To determine the relationship between FBXO42 and PD in Han nationality, we analyzed whether there were differences in the distribution of allele frequencies and gene frequencies between Chinese Han PD patients and normal controls. Methods: all and part of the coding regions of FBXO42 gene in 151 patients with PD were screened by polymerase chain reaction-single strand conformation polymorphism (SSCP) (Polymerase chain reaction-single strand conformation polymorphism, PCR-SSCP combined with sequencing and the type of variation was determined. Then statistical analysis was used to analyze the frequency of alleles and alleles found in 316 PD patients (including the previous 151 cases) and 295 matched patients (by sex). Age and region matching were used to analyze the distribution and haplotype of multiple variations found in normal controls. Results: 1. Three mutations (rs2273311,rs12069239 and rs35196193) were found in the FBXO42 gene group and the control group. In addition, a new TC base replacement c.1407TCwas found in a sporadic PD patient. Online prediction found that none of the four variants changed splicing sites. 2. 2. Statistical analysis showed that there was no significant difference in the distribution of gene frequencies and alleles between 316 PD patients and 295 normal controls (rs2273311, rs12069239 and rs35196193). Haploid analysis showed that G-C-G (rs2273311-rs12069239-rs35196193), a common haplotype of FBXO42 gene, was associated with PD in Han nationality (P0. 002, OR=1.69,95%CI=1.06-2.71). There was statistical significance after Bonferroni correction (P0. 008). Conclusion: although the variation of the coding region of FBXO42 gene may not be associated with the pathogenesis of PD in Chinese Han nationality, the haplotype (G-C-G) of FBXO42 gene may increase the risk of PD.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.5
【参考文献】
相关期刊论文 前1条
1 王刚;郑lm;谭玉燕;孙小康;周海燕;叶晓来;王瑛;王增;孙伯民;陈生弟;;帕金森病疾病经济负担及相关因素的调查研究[J];中华神经科杂志;2006年05期
，本文编号：2325782
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