铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

运用多导生理测量仪协助鉴别诈病的初步观察

目的 探讨运用多导生理测量仪协助鉴别诈病的可能性。方法 采用国产PG－7型多道生理测量仪对15例疑有诈病者进行检测,并进行随访。结果 在15例中,2例呈现说谎反应,其中1例考虑为诈病,1例考虑无精神病症状,另1例对所有测题均呈现相同的低波反应,分析可能因器质性精神障碍致其不能理解提问,余12例未呈现说谎反应,分别诊断为精神分裂症、无精神病等,这一结果与随访结果一致。结论 多导生理测量仪对于鉴定器质性精神障碍及诈病有特殊作用。     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

Objective To evaluate the association of 2616c/T polymorphism in iron regulatory protein 2(IRP2)gene with Alzheimer disease(AD)and Vascular dementia(VD).Methods In this study,281 patients with AD,60 with VD,and 285 normal aged were recruited.The 2616C/T polymorphism in IRP2 gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism.And the cognitive function was assessed with the Mini-Mental State Examination(MMSE).Results (1)No significant difieFences were demonstrated in IRP2 genotype or allele frequencies between AD patients and controls(χ2=2.46,P=0.292;χ2=2.17,P=0.141 respectively).However,when AD patients were stratified by disease severity.the frequency of T allele carriers in the moderate to severe AD patients was 78.0%,significantly higher than that in controls(69.8%;χ2=4.106,P＜0.05).Logistic regression analysis demonstrated that the age-,sex-and ApoE-adiusted OR of modcrate to severe AD patient with T allele was 1.62(95% CI=1.03-2.54).The frequency of T allele carriers or T allele in VD patients was higher than that of controls,but the difference was not statistically significant(P＞0.05).(2)The frequency of tit genotype or T allele in the moderate to severe AD patients was significantly higher than that in mild AD patients(25.8%vs.12.5%,χ2=5.477,P＜0.05;51.9%vs.40.3%,χ2=5.803,P＜0.05 respectively).(3)MMSE scores of the AD patients with TT genotype was significantly lower than ones with CC or CT genotype(P=0.028;P=0.014 respectively).Conclusion The 2616C/T polymorphism in the IRP2 gene is possibly associated with moderate to severe AD.but not associated with VD.And the TT genotype may be a risk factor for cognitive impairment of patients with AD in Chinese Han.     

铁调节蛋白2基因多态性与阿尔茨海默病及血管性痴呆的相关分析

目的 探讨铁调节蛋白2(IRP2)基因2616C/T多态性与阿尔茨海默病(AD)、血管性痴呆(VD)的关系.方法 用聚合酶链反应-限制性片段长度多态性技术检测281例AD、60例VD患者及285名正常老年人的IRF2基因2616C/T多念性分布,并评定简易精神状态检查表(MMSE);将AD患者按临床痴呆评定量表(CDR)评分分为轻度痴呆组(CDR=1分,72例)和中重度痴呆组(CDR=2分或3分,209例),比较各组间IRP2基因2616C/T多态性.结果 (1)AD组与对照组基因型(χ2=2.46)及等位基因(χ2=2.17)总体分布差异无统计学意义(P>0.05);而中重度AD组携带T等位基因的基因型频率(78.0%)高于对照组(69.8%;χ2=4.106,P<0.05),Logistic回归分析其中携带含T等位基因的基因型患者的比值比=1.62(95%可信区间=1.03～2.54).VD组携带含T等位基因型频率和T等位基因频率虽高于对照组,但未达统计学意义(P>0.05).(2)中重度AD患者T/T基因型频率(25.8%)和T等位基因频率(51.9%)高于轻度AD患者(分别为12.5%和40.3%),差异均有统计学意义(χ2=5.477和5.803,P<0.05).(3)携带T/T基因型的AD患者MMSE评分低于C/C基因型者(P=0.028)和C/T基因型者(P=0.014).结论 IRP2基因2616C/T多态性与中重度AD相关,而与VD可能无关联;T/T基因型可能是AD患者认知功能损害的危险因子.     

稳定期双相障碍Ⅰ型患者的认知功能及相关因素

目的:探讨稳定期双相障碍Ⅰ型患者认知功能损害及其相关因素.方法:纳入来自广州市精神病医院门诊和住院部的符合美国精神障碍诊断与统计手册第四版双相障碍Ⅰ型诊断标准的稳定期患者160例,以及来自本院或其他单位/学校的正常对照145名.采用数字符号、连线测验A(Trail Making Test A,TMT-A)、数字广度(顺背)、视觉再生检测受试者的注意、记忆功能,用连线测验B(Trail Making Test B,TMT-B)和数字广度(倒背)检测执行功能,特别是工作记忆和认知灵活性.结果:(1)患者组数字符号[(46.3±11.9)vs.(57.3±12.5)]、数字广度[顺背:(7.7±1.3)vs.(8.1±1.5)、倒背:(4.8±1.3)vs.(5.6±1.8)、总分:(12.5±2.2)vs.(13.68±2.9)]、视觉再生[(9.3±3.1)vs.(10.26±3.3)]、TMT-A[(54.1±19.0)vs.(42.6±16.9)]、TMT-B[(81.8±30.7)vs.(67.0±28.0)]成绩均差于正常对照组(Ps<0.01).(2)按有(n=98)和无(n=62)精神病性症状将患者组进一步分层分析,方差分析显示组间差异有统计学意义(P<0.05),经LSD检验,2个患者亚组的数字广度(倒背、总分)、TMT-A、TMT-B成绩均差于正常对照组(P<0.05);有精神病性症状患者组的数字符号、数字广度(顺背)、视觉再生成绩也差于正常对照组(P<0.05).(3)相关分析显示,患者组上述认知指标均与汉密尔顿抑郁量表和/或Young躁狂量表评分弱相关(|r|=0.15～0.26,Ps<0.05),数字符号与病程评分弱相关(r=-0.18,P<0.05);未发现发病年龄和稳定期时间与任何认知功能指标相关(P>0.05).结论:稳定期双相障碍Ⅰ型患者存在明显的注意、记忆和执行功能损害,并与临床症状等临床特征无明显相关或相关性不强.     

对氧磷酶1基因Gln192Arg多态性与阿尔茨海默病的关联研究

目的 探讨对氧磷酶1(paraoxonase—1，PON1)基因Gln192Arg多态性与汉族散发阿尔茨海默病(AD)的关系。方法 以165例散发AD患者和174例年龄匹配老年人为对象进行病例．对照研究。用PCR-RFLP法检测PON1及载脂蛋白E(ApoE)基因多态并进行关联分析。结果 AD组与对照组PON1基因Gln192Arg多态性分布没有显著性差异。研究对象按ApoEε4携带状况分层后，各亚组之间基因多态性分布亦无显著性差异。结论 PON1基因Gln192Arg多态性与中国汉族人群AD不存在关联。     

广州市60岁及以上老人轻度认知障碍的患病率调查

目的调查广州地区城乡年龄≥60岁老人中轻度认知障碍(MCI)的患病率。方法用分层随机整群抽样方法抽样,采用筛查和确诊两阶段法进行调查,实查年龄≥60岁老人4697人,失访率4.9%。MCI诊断需符合Petersen的诊断标准及临床痴呆程度评定量表(CDR)评分等于0.5。结果①检出MCI患者257例,粗患病率为5.47%,经广州市2000年人口年龄构成标化,MCI的患病率为4.94%;②其中男女MCI患者分别为67例和190例,女性粗患病率显著高于男性(6.87%vs 3.47%,P<0.001),年龄标化患病率分别为6.51%和2.90%;③MCI患病率随年龄的增加而增高(P<0.001);④城区MCI粗患病率略低于农村,但差异无统计学意义(5.22%vs 6.66%,P>0.05);⑤有脑血管病史患者MCI的患病率高于无脑血管病史的老人(10.93%vs 5.08%,P<0.001)。⑥血管性非痴呆认知障碍(VMCI)的患病率为0.72%,男女两性的患病率差异无统计学意义(P>0.05)。结论MCI患病率随年龄增长而增高,女性高于男性,有脑血管病史者患病率较高,提示高龄、女性、有脑血管病史是MCI的易感因素。     

广州市阿尔茨海默病人及正常老人丁酰胆碱酯酶基因K变异对照研究

目的　观察丁酰胆碱酯酶基因 (BCHE)K变异在广州地区汉族老年人中的分布 ,探讨其与晚发阿尔茨海默病 (AD)的关联性。方法　以 10 6例晚发AD患者和 133名健康老年人为对象进行病例 对照研究。采用等位基因特异聚合酶链反应法 (AS PCR)分析BCHE基因K型多态性。结果　晚发AD患者和正常老年人中 ,正常等位基因 1的频率分别为 93 4 0 %和 93 6 1% ,K变异等位基因 2的频率分别为 6 6 0 %和 6 39% ;晚发AD患者和正常老年人之间BCHE基因K多态各等位基因和基因型分布差异无显著性 (P >0 0 5 ) ;样本采用载脂蛋白Eε4基因 (APOEε4 )分层后 ,AD组与对照组BCHE基因K变异频率仍然无显著性差异 (P >0 0 5 )。结论　BEHE K变异在广州地区汉族人群中与晚发AD不存在关联 ,提示该多态性不是晚发AD的风险因子。     

临床医生精神疾病态度量表中文版在社区精神卫生工作者中的信度、效度研究

目的:探讨临床医生精神疾病态度量表(MICA)中文版在社区精神卫生工作者中的信度、效度与可接受性。方法:应用MICA中文版对广州市8个区(市)80名社区精神卫生工作者进行间隔1周的两次调查、报告和意向行为量表(RIBS)调查,并附加关于生活中对精神疾病患者态度及对MICA理解度的调查。结果:MICA中文版内部一致性信度(Cronbach’α)为0.720,分半信度为0.685,重测信度为0.764(P0.05);表面效度良好;与RIBS总分及附加条目评分呈负相关(r=-0.516,r=-0.310;P均0.01)。主成份分析产生6个因子,共解释方差65.1%。该量表3 min内可完成。结论:MICA中文版是社区精神卫生工作者对精神疾病态度的有效评估工具。     

α2-巨球蛋白基因多态性与Alzheimer病的关联研究

目的　观察α2-巨球蛋白基因(α2-macroglobulin, A2M)内含子17一种五核苷酸缺失突变在广州地区汉族老年人中的分布，探讨其与晚发Alzheimer病(AD)的相关性。方法　以97例晚发AD患者和111名健康老年人为对照进行病例-对照研究。用聚合酶链反应-限制性片段长度多态性方法分析A2M缺失／插入多态性和载脂蛋白E(apolipoprotein E， apoE)基因多态性。结果　(1)A2M基因缺失突变在晚发AD患者中的频率为2.6%，在正常老年人中的频率为2.7%，在所有受试者中未检测到A2M突变纯合体，晚发AD患者和健康老年人之间不存在A2M等位基因和基因型分布的差异，A2M基因多态性与晚发AD无关联。(2)晚发AD患者中apoE等位基因ε4频率显著升高(Z=3.32，P＜0.01)。晚发AD与ε3／ε4基因型正关联(RR=2.62，χ2=6.89，P＜0.01)，和等位基因ε4正关联(RR=2.67，χ2=10.71，P＜0.01)。(3)晚发AD无论是否伴有apoE-ε4均与A2M不存在相关性。结论　广州汉族人群中A2M基因缺失突变多态性与晚发AD不具有关联。