新疆维吾尔族、汉族与帕金森病LRRK2基因R1628P位点的相关突变性研究

发布时间：2018-08-23 20:50

【摘要】：目的：研究LRRK2基因R1628P位点突变与新疆维吾尔族和汉族人群帕金森病(Parkinson's disease, PD)的发病关系,比较两民族在LRRK2基因R1628P位点突变分布是否存在差异性。方法：采用病例-对照研究选择临床确诊的PD者为病例组281人(汉族170例,维吾尔族111例),健康体检者为对照组330人(汉族160例,维吾尔族170例),利用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction length fragment polymorphism, PCR-RFLP)和DNA测序法对新疆地区维吾尔族和汉族人群当中的LRRK2基因R1628P位点突变进行分析。结果：新疆维吾尔族与汉族PD病例组及对照组LRRK2基因R1628P位点经酶切后仅发现GG型,未见GC及CC型突变,经测序后与酶切结果一致,均未检测出LRRK2基因R1628P位点突变GC型及CC型；其突变频率均为0；差异无统计学意义。新疆维吾尔族和汉族PD组与正常对照组LRRK2基因的R1628P位点基因型及等位基因频率,差异无统计学意义(P0.05)。维族PD和维族对照间LRRK2基因R1628P位点基因型及等位基因频率,差异无统计学意义(P0.05)。汉族PD和汉族对照间LRRK2基因R1628P位点基因型及等位基因频率,差异无统计学意义(P0.05)。维族PD和汉族PD组间LRRK2基因R1628P位点基因型及等位基因频率,差异无统计学意义(P0.05)。EOPD组与LOPD组间LRRK2基因R1628P位点基因型及等位基因频率,差异无统计学意义(P0.05)。男性PD组与女性PD组间LRRK2基因R1628P位点基因型及等位基因频率,差异无统计学意义(P0.05)。即研究结果表明按不同民族、年龄、性别分组后比较差异均无统计学意义(P0.05)。结论： (1)该研究中LRRK2基因R1628P位点的基因型为GG型,未见GC型及CC型,GG基因频率为100%,GC型基因频率为0%,CC型基因频率为0%,携带等位基因G的频率为100%,携带等位基因C的频率为0%。 (2)在新疆地区,维吾尔族及汉族PD中,LRRK2基因的R1628P位点无基因型及等位基因型突变。
[Abstract]:Objective: to study the relationship between the R1628P mutation of LRRK2 gene and the incidence of Parkinson's disease (Parkinson's disease, PD) in Xinjiang Uygur and Han population, and to compare the difference of R1628P mutation distribution between the two peoples in LRRK2 gene. Methods: a case-control study was conducted to select 281 patients with clinically confirmed PD (170 Han and 111 Uygur) and 330 healthy controls (160 Han, 160 Han). Polymerase chain reaction-restriction fragment length polymorphism (polymerase chain reaction-restriction length fragment polymorphism, PCR-RFLP) and DNA sequencing were used to analyze the R1628P mutation of LRRK2 gene in Uygur and Han populations in Xinjiang. Results: the R1628P locus of LRRK2 gene of Xinjiang Uygur and Han nationality were only found GG type by enzyme digestion, no GC and CC mutation were found. The results of sequencing were consistent with the result of restriction endonuclease digestion. No LRRK2 R1628P mutation GC type and CC type were detected. The mutation frequency was 0, and the difference was not statistically significant. There was no significant difference in R1628P genotype and allele frequency of LRRK2 gene between Xinjiang Uygur and Han PD group and normal control group (P0.05). There was no significant difference in genotype and allele frequency of LRRK2 R1628P locus between Uygur PD and Uygur controls (P0.05). There was no significant difference in genotype and allele frequency of LRRK2 gene R1628P between Han PD and Han controls (P0.05). There was no significant difference in R1628P genotype and allele frequency of LRRK2 gene between Uygur PD and Han PD group (P0.05). There was no significant difference in R1628P genotype and allele frequency between EOPD group and LOPD group (P0.05). There was no significant difference in R1628P genotype and allele frequency between male PD group and female PD group (P0.05). The results showed that there was no significant difference between different ethnic groups, age groups and sex groups (P0.05). Conclusion: (1) in this study, the genotype of R1628P locus of LRRK2 gene is GG type. There is no GC type and CC type GG gene frequency. The frequency of GC type gene is 0 and the frequency of CC gene is 0. The frequency of carrying allele G is 100 and the frequency of allele C is 0. (2) the R1628P locus of LRRK2 gene in PD of Uygur and Han nationality in Xinjiang area had no genotype or allele mutation.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R742.5

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