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目的探讨中国新疆地区维吾尔族、汉族人群多巴胺代谢酶-单胺氧化酶B(MAO-B)基因内含子13 G/A多态性与帕金森病(PD)遗传易感性的关系,以及PD患者基因型与临床特点的关系。方法研究对象为中国新疆地区241例PD患者(PD组),其中维吾尔族95例(维吾尔族PD组)、汉族146例(汉族PD组);另选择247名健康对照者(对照组),其中维吾尔族104例、汉族143例。收集并分析PD患者临床资料;采用聚合酶链反应-限制性片段长度多态性分析法(PCR-RLFP)进行MAO-B基因多态性分析,研究基因型和等位基因频率分布情况。结果①PD组与对照组MAO-B基因G/A基因型及等位基因频率差异无统计学意义。②维吾尔族PD组和汉族PD组与对照组的基因型及等位基因频率差异无统计学意义。③男性PD组和女性PD组与相同性别对照组的基因型及等位基因频率分布差异无统计学意义。④发病年龄≤70岁PD患者与对照组基因型频率、等位基因频率差异无统计学意义;>70岁的PD患者与对照组基因型频率、等位基因频率差异有统计学意义。⑤新疆地区维吾尔族、汉族PD患者的3种基因型的临床特点差异无统计学意义。结论MAO-B基因的AA基因型与A等位基因频率增高是发病年龄>70岁新疆维吾尔族和汉族PD患者的危险因素。PD患者MAO-B基因3种基因型的临床特点无差别。
Objective To investigate the relationship between the 13 G / A polymorphism of dopamine-metabolizing enzyme-monoamine oxidase B (MAO-B) gene and the genetic susceptibility to Parkinson’s disease (PD) in Uighur and Han Chinese in Xinjiang, China, Relationship with clinical features. Methods A total of 241 PD patients (PD group) were enrolled in this study. 95 Uygur patients (PD group), 146 Han patients (Han PD group) and 247 healthy controls (control group) 104 Uygur nationality and 143 Han nationality. The clinical data of patients with PD were collected and analyzed. The polymorphism of MAO-B gene was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RLFP) to investigate the genotype and allele frequency distribution. Results ① There was no significant difference in the genotype and allele frequencies of MAO-B gene between the PD group and the control group. ② There was no significant difference in genotype and allele frequency between Uygur PD group and Han PD group and control group. ③ There was no significant difference in genotype and allele frequency distribution between male PD group and female PD group and the same sex control group. ④ There was no significant difference in genotype frequency and allele frequency between PD patients and controls at age ≤70 years. There was significant difference in genotype frequency and allele frequency among PD patients and controls> 70 years old. ⑤ The clinical features of three genotypes of Uygur and Han patients in Xinjiang were not statistically different. Conclusions The AA genotype and the increased frequency of allele A in MAO-B gene are the risk factors for PD patients with age> 70 years old in Uygur and Han ethnic groups in Xinjiang. There was no difference in the clinical features of the three genotypes of MAO-B in PD patients.