目的：探讨新疆维吾尔族、汉族帕金森病（ PD）患者α－突触核蛋白SNCA基因多态性与临床症状的关系。方法应用PCR－限制性片段长度多态性分析法对新疆地区的90例维吾尔族和135例汉族PD患者进行SNCA基因rs3822086位点多态性分析。采集相关临床资料；采用H－Y分期法判断PD严重程度；采用统一PD评定量表（UPDRS）、日常生活能力问卷（ADL）、MMSE和神经精神问卷（NPI）进行评分。比较SNCA基因rs3822086位点不同基因型 PD 患者间临床症状的差异。结果基因检测结果显示， SNCA 基因rs3822086位点C／T基因型111例，T／T基因型61例，C／C基因型53例；不同基因型PD患者间年龄、性别、民族及病程的差异均无统计学意义。不同基因型PD患者间H－Y分期的差异无统计学意义（ P＝0．237）；PD严重程度的差异无统计学意义（ P＝0．068）；首发症状的差异无统计学意义（ P＝0．746）；UPDRSⅡ评分的差异无统计学意义（P＝0．598）；UPDRSⅢ评分的差异无统计学意义（P＝0．815）；UPDRSⅣ评分的差异无统计学意义（P＝0．096）；ADL评分的差异无统计学意义（P＝0．464）；MMSE评分的差异无统计学意义（P＝0．475）。SNCA基因rs3822086位点T／T基因型PD患者NPI评分明显高于C／C基因型PD患者（ P＜0．05）。结论新疆维吾尔族、汉族PD患者SNCA基因T／T基因型在神经精神症状方面的风险要高于C／C基因型，其他临床症状与SNCA基因多态性无关。%Objective To investigate the relationship between the polymorphisms of α-synuclein SNCA gene and the clinical symptoms in Xinjiang Uygurs and Hans Parkinson's disease ( PD ) patients.Methods PCR restriction fragment length polymorphism analysis was used to detect the polymorphisms of SNCA gene rs3822086 site in 90 Uygurs and 135 Hans PD patients.The related clinical data was collected.The H-Y installment method was used to determine PD severity.And the unified PD rating scale (UPDRS), daily life ability (ADL), MMSE and neuropsychiatric inventory ( NPI ) were scored.The clinical symptoms among patients with different genotypes of SNCA gene rs3822086 site were compared.Results Genetic tests showed that SNCA gene rs3822086 site C/T genotypes were 111 cases, T/T genotypes were 61 cases, C/C genotypes were 53 cases.And the differences of age, gender, national and disease course among patients with different genotypes were no statistical significance.The difference of H-Y installment among patients with different genotypes was no statistical significance (P=0.237);the difference of PD severity was no statistical significance ( P=0.068 );the difference of starting symptoms was no statistical significance ( P=0.746 );the difference of UPDRSⅡ was no statistical significance ( P=0.598 );the difference of UPDRSⅢ was no statistical significance ( P=0.815 );the difference of UPDRSⅣ was no statistical significance (P=0.096);the difference of ADL was no statistical significance (P=0.464);the difference of MMSE was no statistical significance ( P=0.475 ) .The NPI score of PD patients with SNCA gene rs3822086 site T/T genotype was significantly higher than that in PD patients with C/C genotype (P<0.05).Conclusions The risk of spirit symptoms in SNCA gene T/T genetype is higher than in C/C genetype in Xinjiang Uygurs and Hans PD patients.And the other clinical symptoms has nothing to do with the SNCA gene polymorphism.
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