DXS7基因座的多态性与单相抑郁症

目的　本工作旨在研究单相型抑郁症与 Ｘ 染色体上 Ｄ Ｘ Ｓ７ 基因座多态性间的遗传关联。方法　应用 Ｐ Ｃ Ｒ 扩增片段长度多态性（ Ａｍｐ Ｆ Ｌ Ｐ） 研究６６ 例单相型抑郁症中 Ｄ Ｘ Ｓ７ 基因座的多态性分布。结果　在６６ 例患者和８５ 名正常人中观察到 Ｄ Ｘ Ｓ７ 基因座有４ 种等位基因,片段大小为１５７ ～１６７ ｂｐ ,经比较多态性分布表明患者与正常人间在频率分布上无显著性差异,但是在早发型抑郁症和迟发型抑郁症间有差异。结论　迟发型抑郁症与 Ｄ Ｘ Ｓ７ 基因座的１６５ ｂｐ 等位基因呈显著性关联（ Ｒ Ｒ＝ ２０８ , Ｐ＜ ００５） 。     

微卫星DNA DXS1113的多态性与心境障碍

目的 搜寻中国汉族人Ｘ染色体上的心境障碍（ＭＤ）易患性基因,探讨ＤＮＡＤＸＳ１１１３多态性与ＭＤ的关系及遗传学特征。方法 运用扩增片段长度多态性检测技术,分析８０例ＭＤ患者ＤＸＳ１１１３二核苷酸串联重复序的多态性分布,并以８０名正常人作为对照。结果 在对照组和ＭＤ组中检出１２种ＤＸＳ１１１３多态性片段,ＭＤ组与对照组之间有４种片段的差异有显著性。结论ＤＸＳ１１１３与ＭＤ关联,提示中国汉族人Ｘ染色体     

五羟色胺转运体基因多态性与精神疾病

五羟色胺转运体在五羟色胺能神经递质传递的微调中起关键作用，其基因上有两个重要的多态性位点，一个为促进子区的多态性重复序列5-HTTLPR，另一个为内含子2区的可变数目串联重复序列，这两种基因多态性可能由于参与5-HTT的转录调节或者与某种未知基因的连锁而与情感障碍、精神分裂症、物质依赖、人格特征、强迫症等多种精神疾病相关，但目前的研究结果尚不一致，未能得出较为肯定的结论。     

五羟色胺转运体基因多态性与精神疾病

五羟色胺转运体在五羟色胺能神经递质传递的微调中起关键作用 ,其基因上有两个重要的多态性位点 ,一个为促进子区的多态性重复序列 5 - HTTLPR,另一个为内含子 2区的可变数目串联重复序列 ,这两种基因多态性可能由于参与 5 - HTT的转录调节或者与某种未知基因的连锁而与情感障碍、精神分裂症、物质依赖、人格特征、强迫症等多种精神疾病相关 ,但目前的研究结果尚不一致 ,未能得出较为肯定的结论     

血管紧张素转化酶基因多态性与精神疾病

本文就血管紧张素转化酶基因多态性及其与精神疾病的关系,进行了研究文献的综述。     

APOE基因多态性与抑郁症和痴呆的关联分析

目的：探索基因与抑郁症和痴呆的关联。方法：对42例单相抑郁症,39例双相抑郁症,40例痴呆和100例健康对照者进行载脂蛋白E（appolipoprotein,APOE)基因分型,计算基因频率,并对抑郁症、痴呆与APOE基因多态性进行关联分析。结果：抑郁症和痴呆的APOEε2等位基因频率比对照组低,单相抑郁症和痴呆的APOEε4等位基因频率高于对照组,且APOEε4等位基因与痴呆密切关联。结论：APOEε2基因可能是抑郁的保护因子,痴呆与单相抑郁症可能分享共同的发病因子。     

APOE基因多态性与单相抑郁症无关联

目的 探讨APOE基因与单相抑郁症之间的关系。方法 以73例单相抑郁症患者为研究对象,80例健康人为对照组。用聚合酶链反应（PCR）扩增技术及限制性片段长度多态性（RFLPs)技术测定研究对象的APOE基因多态性。结果 发现单相抑郁症与APOE基因的多态性之间无关联。结论 APOE基因对上海汉族人群中单相抑郁症的病因可能不起重要作用。     

5-羟色胺2A受体基因多态性与精神疾病

五羟色胺2A受体基因是人类精神疾病研究的重要候选基因之一,本文对其基因多态性与精神疾病的研究作了简要的文献综述。     

α7-烟碱样乙酰胆碱受体基因多态性与精神分裂症的关联研究

目的 研究α7-熘碱样乙酰胆碱受体基因rs1042724多态性与精神分裂症的相关性。方法运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术，对符合精神分裂症诊断标准的98个先证者及其父母组成的核心家系，测定α7-烟碱样乙酰胆碱受体基因分型，进行精神分裂症的α7-烟碱样乙酰胆碱受体基因多态性的关联分析和传递不平衡（TDT）检验。结果TDT检验结果提示α7-烟碱样乙酰胆碱受体基因等位基因与精神分裂症之间的相关性（McNemarX^2=4．21，P〈0．05），且等位基因T携带者，其精神分裂症的易患性是C携带者的1．31倍（RR=1．31,X^2（RR）=3．96，P〈0．05）。结论 提示α7-烟碱样乙酰胆碱受体基因rs1042724与精神分裂症相关联。     

RAB7L1基因启动子多态性与中国西南地区汉族帕金森病的关联

目的：探讨RAB7L1基因启动子区位点rs1572931的多态性与中国西南地区汉族帕金森病（PD ）的关联。方法收集2010年10月～2014年12月于川北医学院就诊的243例PD患者（PD组）和455名年龄匹配、无PD的健康体检者（对照组）,运用限制性片段长度多态性聚合酶链反应（PCR －RFLP）方法进行基因分型,探讨RAB7L1基因 rs1572931位点的单核苷酸多态性（SNP）与中国西南地区汉族PD的关系。结果 rs1572931的 T 等位基因频率在 PD 组和对照组中分别为27．98％和34．18％,差异有统计学意义（ P＝0．019,OR＝0．748,95％ C I＝0．588～0．952）;T T基因型频率在PD组和对照组中分别为4．94％与10．99％,差异有统计学意义（ P＝0．008,OR＝0．421,95％ C I＝0．220～0．806）。结论 RAB7L1基因 rs1572931位点的 T T基因型可能在中国西南汉族人群 PD的发生中起保护作用。     

The diagnostic value in assessing mood congruence in delusions and hallucinations and their relationship to the affective state

Summary An examination was carried out on 140 schizophrenics, 34 schizoaffective manics, 6 schizoaffective depressives, 59 unipolars, and 30 bipolars to determine the variables of affective states and mood-congruent and mood-incongruent psychotic symptoms. These patients had been admitted to a hospital in Zürich and were systematically diagnosed, using both clinical and computer-derived systems. Forty-eight patients (18%) had both mood-congruent and incongruent psychotic symptoms. However, the affective disorders usually showed mood-congruent symptoms and the schizophrenics the mood-incongruent types. The schizoaffectives were likely to show both types. There was a marked dissociation between affective states and mood congruence in the schizophrenics. Though the majority of these patients showed depressive syndromes, they were quite unlikely to have mood-congruent symptoms. Likewise, 25% of the schizophrenics had manic-like syndromes, which contrasted with the fact that they rarely had mood-congruent psychotic delusions and hallucinations.     

Saitohin基因Q7R多态性与晚发型阿尔茨海默病的相关性研究

目的探讨Saitohin基因(STH)Q7R多态性是否与晚发型阿尔茨海默病(late-onset Alzheimer’s Disease,LOAD)相关。方法收集206例尸体检查的样本,其中包括100例LOAD和年龄匹配的对照组106例。STH基因Q7R的基因型是用PCR-RFLP(Restriction fragment length polymorphism)法来分析。结果STH基因Q7R的基因型频率分布是QQ型113例(55%),QR型79例(38%)例,RR型14例(7%),LOAD组和对照组这些基因型频率及其等位基因频率分布的差异均无统计学意义(P>0.05)。结论本研究提示STH基因Q7R多态性与LOAD无相关性。     

Depression in the elderly: pathological study of raphe and locus ceruleus

Depressive symptoms in the elderly are common and disabling and constitute a risk factor for the development of Alzheimer's disease (AD). One hypothesis worth exploring is that depression in the elderly is related to development of AD pathology at subcortical sites before such pathology develops in the hippocampus and neocortex. We describe here an autopsy study of the locus ceruleus (LC) and raphe nuclei (RN) in nine subjects with depression and 18 age and sex matched controls that were included in a community-based study of cognitive function and ageing (MRC-CFAS). We found no relationship between depression and (1) mean counts of serotonergic or total RN neuronal profiles (2) noradrenergic or total LC neuronal profiles (3) counts of neurofibrillary tangles in these nuclei, or (4) size of neurones in the RN. Nor were these parameters related to age or sex of the subjects. We conclude that depression in the elderly is unlikely to be related to RN or LC neurone counts or RN cell size or to AD-type pathology in these nuclei. However, because of the small numbers of cases studied and our inability to carry out a full stereological study because of tissue limitations the findings are preliminary.     

Heart disease treatment and mortality in schizophrenia and bipolar disorder - Changes in the danish population between 1994 and 2006

Persons with schizophrenia and bipolar disorder have much higher heart disease mortality rates than the general population. The objective was to compare the general population with persons with schizophrenia, bipolar disorder or other psychiatric disorders in terms of rates of somatic hospitalization and invasive heart disease procedures, and in terms of heart disease mortality during the period 1994 to 2006. Survival analysis was used to analyze heart disease mortality and somatic care trends in a cohort of all persons residing in Denmark. During the study period, heart disease mortality rose significantly among persons with schizophrenia: compared with the general population, the rise in the mortality rate ratio equalled 1.12 (95% confidence interval (CI) 1.08-1.15) every second year. This was not the case for persons with bipolar disorder [1.02 (0.98-1.05), not significant] or other psychiatric disorders [1.00 (0.99-1.01), not significant]. The entire period saw a lower hospitalization rate and fewer invasive cardiac procedures among persons with schizophrenia than among the general population. The higher mortality (with increasing trends) from heart disease in persons with schizophrenia compared to the rest of the cohort members can be explained partly by low rates of invasive cardiac procedures. However, other reasons, such as antipsychotic-induced weight gain, primary prevention, and difficulty following smoking cessation advice could also be part of the explanation. The results call for a greater focus on improvement in somatic care and lifestyle factors for this group of patients.     

Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression.

BACKGROUND: Previous genetic studies investigating a possible involvement of variations at the brain derived neurotrophic factor (BDNF) gene locus in major depressive disorder (MDD), bipolar affective disorder (BPAD), and schizophrenia have provided inconsistent results. METHODS: We performed single-marker and haplotype analyses using three BDNF polymorphisms in 2,376 individuals (465 MDD, 281 BPAD, 533 schizophrenia, and 1,097 control subjects). RESULTS: Single-marker analysis did not provide strong evidence for association. Haplotype analysis of marker combination rs988748-(GT)n-rs6265 produced nominally significant associations for all investigated phenotypes (global p values: MDD p = .00006, BPAD p = .0057, schizophrenia p = .016). Association with MDD was the most robust finding and could be replicated in a second German sample of MDD patients and control subjects (p = .0092, uncorrected). Stratification of our schizophrenia sample according to the presence or absence of a lifetime history of depressive symptoms showed that our finding in schizophrenia might be attributable mainly to the presence of depressive symptoms. CONCLUSIONS: Association studies of genetic variants of the BDNF gene with various psychiatric disorders have been published with reports of associations and nonreplications. Our findings suggest that BDNF may be a susceptibility gene for MDD and schizophrenia-in particular, in a subgroup of patients with schizophrenia with a lifetime history of depressive symptoms.     

精神病混合家系GRIK2基因多态性的关联研究

目的　在中国汉族人群混合家系中探讨GRIK2基因多态性与精神分裂症、心境障碍是否 关联。方法　采用PCR RFLP技术对GRIK2基因多态性rs6922753(T/C)和rs2227283(G/A)分型,进行 传递不平衡检验(TDT)。结果　(1)rs6922753多态性与精神分裂症(χ2=3.13,P>0.05)或心境障碍 (χ2=3.20,P>0.05)无关联,但在发病年龄≤25岁的患者中与两组疾病均相关联(P<0.05);(2) rs2227283多态性与精神分裂症(χ2=9.85,P<0.01)、心境障碍(χ2=13.50,P<0.01)呈显著关联;(3) 双位点TDT提示单体型TG、CA与精神分裂症、心境障碍相关联(P<0.05)。结论　在中国汉族人群 中GRIK2基因或邻近基因可能是精神分裂症和心境障碍的共同易患基因之一,并可能影响发病年龄。     

5-HT6受体基因多态性与双相情感障碍的关联研究

目的探讨5-HT6受体基因多态性与双相情感障碍之间的关系。方法应用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术，对93例双相情感障碍病人和102例正常对照者的5-HTs受体基因多态性(267C／T)进行了检测。结果双相情感障碍与5-HT。受体基因的多态性(267C／T)之间无显著意义的关联，发病年龄也与此多态性无关。结论5-HT。受体基因的267C／T多态性可能与双相情感障碍的发生无直接关联。