apoB基因G11039A多态性与家族聚集性脑出血的相关性研究

目的探讨载脂蛋白B基因G11039A多态性与长沙地区汉族人群有家族聚集性脑出血的关系。方法采集长沙地区汉族15个有家族聚集现象的脑出血家系117例成员(其中脑出血患者37例、Ⅰ级亲属33例、Ⅱ级亲属26例、Ⅲ级亲属21例)、93例散发性脑出血患者和100例正常对照者的外周血标本,运用聚合酶链式反应-限制性片段长度多态性分析法(Polymerase Chain Reaction-Restriction Fragment Length Polymorphism,PCR-RFLP)和DNA直接测序法检测其apoB基因G11039A多态性分布;氧化酶法测定其血清甘油三酯(triglyc-erides,TG)、总胆固醇(total cholesterol,TC)、高密度脂蛋白(high density lipoprotein cholesterol,HDL)、低密度脂蛋白(lowdensity lipoprotein cholesterol,LDL)水平,酶联免疫吸附法测定LP(a)浓度,免疫比浊法测定apoB100及apoAI浓度。结果(1)有家族聚集现象的脑出血家系患者组及Ⅰ、Ⅱ、Ⅲ级家属、散发性脑出血组和对照组apoB基因G11039A多态G/A等位基因频率分别为0.973/0.027、0.985/0.015、0.981/0.019、0.976/0.024、0.978/0.022、0.985/0.015;有家族聚集现象的脑出血家系患者组及Ⅰ、Ⅱ、Ⅲ级亲属、散发性脑出血组apoB基因G11039A多态基因型及等位基因频率与对照组比较无显著性差异(P>0.05);(2)有家族聚集现象的脑出血家患者组、散发性脑出血组及对照组不同基因型亚组间血脂水平无显著性差异(P>0.05)。结论apoB基因G11039A多态性可能与长沙地区汉族人群有家族聚集现象的脑出血无关。     

长沙地区汉族人群apoB基因多态性与脑梗死的关系研究

目的探讨湖南长沙地区汉族人群载脂蛋白B(apolipoprotein B,apoB)G12669A、C7673T多态性与脑梗死的关系。方法采用聚合酶链反应-限制性片段长度多态性分析法分别检测130例脑梗死患者和100例正常对照的apoB基因G12669A、C7673T多态等位基因频率。结果湖南长沙地区汉族人群存在apoB基因G12669A、C7673T多态性,脑梗死组中apoB基因G12669A、C7673T多态等位基因频率G/A为0.904/0.096,C/T为0.881/0.119,在正常对照G/A为0.955/0.045,C/T为0.960/0.040;脑梗死组apoB基因G12669A多态A等位基因频率及C7673T多态T等位基因频率均显高于正常对照组(P<0.05,P<0.01)。结论apoB G12669A多态A等位基因可能是湖南长沙地区汉族人群脑梗死发病的遗传易感因素。     

载脂蛋白H基因7号外显子多态性与长沙地区汉族人脑卒中的相关性

目的 研究载脂蛋白H(apoH)基因7号外显子G817T(Leu247Val)多态性与长沙地区汉族人脑卒中的关系。方法 应用聚合酶链反应-单链构象多态(PCR-SSCP)技术和DNA序列测定法检测长沙地区汉族260例脑卒中患者(脑梗死组和脑出血组各130例)、20个脑卒中家系的成员(脑梗死组10个家系,142例成员,其中患病组25例;脑出血组10个家系,122例成员,其中患病组21例)、100名健康对照者的apoH基因7号外显子G817T(Leu247Val)多态;酶联免疫吸附法检测所有研究对象的血清抗磷脂抗体(APA)水平。结果 在脑梗死组,G817T(Leu247Val)多态T等位基因频率(0.338)明显高于对照组(0.220,P<0.05)。进一步研究发现,有家族史的脑梗死组T等位基因频率(0.370)明显高于对照组(0.220,P<0.05);APA阳性脑梗死组GT基因型频率明显高于对照组及APA阴性脑梗死组(P<0.01,P<0.05),T等位基因频率(0.439)明显高于对照组(0.220,P<0.01)。以脑梗死为主的家系中患病组与未患病组T等位基因频率(0.404,0.332)均明显高于对照组(0.220,P<0.05),未患病组GT基因型频率明显高于对照组(P<0.05)。apoH基因G817T(Leu247Val)多态性与脑出血无关。结论 长沙地区汉族人apoH基因G817T(Leu247Val)多态基因频率分布具有脑卒中家族聚集性。G817T(Leu247Val)多态GT基因型和T等位基     

5,10-亚甲基四氢叶酸还原酶C677T突变及同型半胱氨酸与有家族聚集现象脑血管病的关系

目的　探讨 5 ,1 0 亚甲基四氢叶酸还原酶 (MTHFR)C677T突变及血浆同型半胱氨酸(homocysteine,Hcy)与有家族聚集现象脑血管病的关系。 方法　采用聚合酶链反应 限制性片段长度多态性分析法 (PCR RFLP)分析 2 0个有家族聚集现象的脑血管病家系成员MTHFRC677T突变 ,同时采用反相高效液相色谱 荧光检测法对血浆Hcy的浓度进行测定。结果　①有家族聚集现象的脑出血组中患者与Ⅰ级亲属的MTHFRC677T突变频率分别为 50 0 %、40 5 % ,Ⅱ、Ⅲ级亲属MTHFRC677T频率为 31 8%、2 1 8% ;有家族聚集现象的脑梗死组中患者与Ⅰ级亲属的MTHFRC677T突变频率分别为 54 2 %、52 4% ,Ⅱ、Ⅲ级亲属MTHFRC677T突变频率为 2 0 7%、1 5 0 % ,有家族聚集现象的脑出血组、脑梗死组中患者与Ⅰ级亲属的MTHFRC677T突变频率分别高于其Ⅱ、Ⅲ级亲属 ,其差异有非常显著意义 (P <0 0 1 ) ;②有家族聚集现象的脑出血家系MTHFRC677T突变的纯合子、杂合子和野生型者血浆Hcy浓度分别为 (2 0 3± 7 4) μmol/L、(1 7 0± 9 4) μmol/L、(1 8 1± 8 8)μmol/L ,它们之间比较 ,差异无显著意义 ;有家族聚集现象的脑梗死家系MTHFRC677T突变的纯合子、杂合子和野生型者血浆Hcy浓度分别为 (2 1 5± 8 3) μmol/L、(1 6 8± 4 4) μmol/L、(     

凝血因子Ⅱ、Ⅴ基因多态性与脑梗死的关联研究

目的探讨中国湖南长沙地区汉族人群中凝血因子Ⅱ(FⅡ)、凝血因子Ⅴ(FⅤ)基因单核苷酸多态性与脑梗死之间的关联。方法采用PCR及飞行时间质谱技术对351例确诊为脑梗死的汉族患者(病例组)及417例对照组FⅡ基因rs1799963位点、FⅤ基因rs6025位点进行基因分型。结果病例组FⅡ基因rs1799963位点基因型均为G/G,对照组中基因型为G/G和A/G。病例组与对照组中FⅤ基因rs6025位点基因型均为G/G。对基因型及等位基因频率进行χ2检验示,病例组FⅡ基因rs1799963位点的基因型分布与对照组相比较差异无统计学意义(P0.05);病例组等位基因频率与对照组相比较差异无统计学意义(P0.05)。Logistic回归分析示,FⅡ基因rs1799963位点多态性与脑梗死不相关(P0.05)。结论 FⅡ基因rs1799963位点多态性和FⅤ基因rs6025位点多态性均可能与中国长沙汉族人群脑梗死之间不存在关联。     

湖南汉族人群巨噬细胞移动抑制因子-173G/C基因多态性及其与脑出血关系的研究

目的探讨巨噬细胞移动抑制因子(MIF)-173G/C基因多态性在中国湖南汉族人群中的分布及其与脑出血的关系。方法采用聚合酶链反应-限制性片段长度多态性分析法检测MIF基因-173G/C多态性在脑出血组(162例)和对照组(203例)的基因频率。结果中国湖南地区汉族人群存在MIF基因-173G/C多态性。MIF基因-173G/C基因型的频率分布在脑出血组和对照组之间差异无统计学意义(P>0.05)。G、C两种等位基因频率差异亦无统计学意义(P>0.05)。分类研究后发现合并糖尿病的脑出血组GC+CC(C/X)基因型频率和C等位基因频率显著高于对照组和非合并糖尿病的脑出血组,差异有统计学意义(P<0.05)。结论 MIF-173G/C多态性可能与中国湖南汉族人脑出血发生无关,G/C等位基因可能不是中国湖南地区汉族人群脑出血发病的独立危险因素。     

胱硫醚-β-合成酶基因突变与有家族聚集现象脑血管病关系探讨

目的:探讨胱硫醚-β-合成酶(CBS)基因突变与有家族聚集现象脑血管病的关系,从而探讨不同群体对脑血管病的易感性的差异。方法:采用聚合酶链式反应-单链构象多态性分析法(PCR—SSCP)分析25个有家族聚集现象的脑血管病家系成员CBS基因C699T、C1080T突变;扩增阻滞突变系统分析法(AMRS)分析CBS基因T833C突变。结果:①、脑血管病组(包括有家族聚集现象的脑血管病组)的CBS基因C699T突变频率均高于对照组。②、有家族聚集现象的脑血管病组的CBS基因T833C突变频率较散发性脑血管病组有增高的趋势,有家族聚集现象的脑梗死组中患者和Ⅰ级亲属的CBS基因T833C突变频率高于Ⅱ、Ⅲ级亲属;脑血管病组(包括有家族聚集现象的脑血管病组)的CBS基因T833C突变频率均高于对照组。③、有家族聚集现象的脑血管病组的CBS基因C1080T突变频率高于散发性脑血管病组,有家族聚集现象的脑血管病组中患者和Ⅰ级亲属的CBS基因C1080T突变频率高于Ⅱ＼Ⅲ级亲属;脑血管病组(包括有家族聚集现象的脑血管病组)的CBS基因C1080T突变频率均高于对照组。结论:有家族聚集现象的脑血管病可能与CBSC699T、CBSC1080T、CBST833C基因突变有关。     

载脂蛋白E基因多态性与脑梗死的相关性分析

目的　探讨载脂蛋白 E基因多态性与脑梗死的关系。方法　通过聚合酶链反应 -限制性片段长度多态性 (PCR- RFL P)分析结合 DNA直接银染技术检测 6 6例脑梗死 (CI)患者的载脂蛋白 E(Apo E)基因型 (其中家系中有明确脑梗死先证者的家族聚集性脑梗死 (FMACI)亚组 2 6例 ,家系中无脑卒中史的非家族聚集性脑梗死 (NF-MACI)亚组 4 0例 ) ,并与 90例健康对照组比较 ,同时检测血脂、脂蛋白 (a) [L P(a) ]及部分载脂蛋白。结果　脑梗死组ε3/4基因型频率明显高于对照组 (P<0 .0 1) ,ε3/3基因型频率明显低于对照组 (P<0 .0 1) ;两脑梗死亚组之间的ε3/4/ε3/3基因型频率虽有上升 /下降趋势 ,但未发现明显的统计学差异 ;FMACI组高密度脂蛋白 (HDL )水平明显低于 NFMACI组 (P<0 .0 5 )。结论　 Apo E基因多态性与脑梗死的发生有关 ,ε4等位基因是脑梗死的易感因子 ,ε3等位基因对脑梗死的发生有保护作用 ;Apo E基因多态性和 HDL水平双重作用于家族聚集性脑梗死的发生。     

甘肃地区汉族和回族脑出血患者α-内收蛋白基因rs4963多态性分析

目的 分析甘肃地区汉族和回族脑出血患者α-内收蛋白基因rs4963多态性的分布情况。方法 对甘肃地区汉族和回族脑出血患者各176例应用血液基因组DNA提取试剂盒方法检测α-内收蛋白基因rs4963多态性,比较rs4963多态性的分布差异。结果 汉族组和回族组α-内收蛋白基因rs4963基因型分布、等位基因频率均无明显差异(P>0.05); 按性别分层后汉族组与回族组基因型分布和等位基因频率仍均无明显差异(P>0.05)。结论 α-内收蛋白基因rs4963多态性在甘肃地区汉族和回族脑出血人群中无民族差异。     

Ⅲ型胶原基因COL3A1多态性与脑梗死的相关性

目的 探讨湖南人群中COL3A1基因多态性与脑梗死疾病有无相关性。方法 收集脑梗死患者血样标本110例（包括散发和脑梗死家系的患者）及健康对照血样标本70例。采用聚合酶链反应-简单序列长度多态性（PCR-SSLP）及产物测序分析检测COL3A1基因的多态性。结果 湖南地区汉族脑梗死患者COL3A1基因多态位点基因分布与对照组相比，等位基因片段分布的频率不同，COL3A1基因等位基因型COL3A1-3基因频率分布（0．93）显著高于健康对照组（0．43），差异有统计学意义（χ^2=20．487，P〈0．01）。散发组脑梗死患者和家系组患者各基因分布差异无统计学意义。结论 COL3A1多态分布无明显年龄性别差异，COL3A1基因25号内含子VNTR多态可能与脑梗死的发病有关。     

Denervation study of synapses of organ of corti of old world monkeys

Fine structural characteristics of synapses in the spiral organ of Corti were examined, with reference to differences between inner and outer haircell systems, and to location of neurons of origin of efferent axons. Surgical interruption of crossed olivocochlear bundle, of vestibular nerve, of facial nerve, and excision of superior cervical ganglia were used to determine the pathways of efferent axons. Interruption of the vestibular nerve near the brainstem results in degeneration of all efferent terminals on outer hair cells. Mid-line lesions at, and caudal to, the facial colliculus result in degeneration of about half of these efferent terminals. Efferent synaptic bulbs to the inner hair-cell system are small, of the order of one micron, and form type 2 junctions with afferent dendrites. They tend to have more large dense-core vesicles (about 80 nm) than the large efferent terminals of the outer hair-cell system, and appear to be the terminals of axons in the habenula perforata, which exhibit varicosities laden with large dense core vesicles. The varicosities are unaffected by excision of the superior cervical ganglia. So far as our material can reveal, it appears that the varicosities in the habenula perforata do not survive vestibular root interruption, nor do the efferent processes in the internal spiral bundle or at the base of inner hair cells. Most interestingly, the afferent processes of the inner hair-cell system, as identified for example by their relation to pre-synaptic bodies in the inner hair cells, are subject to a trans-synaptic reaction after severance of the vestibular root. They undergo a dramatic cytological transformation, characterized by increase of volume, engorgement with microtubules, microfilaments, microvesicles of various sizes, and clusters of lysosomes. Thus, both the efferent and afferent terminals of the inner hair-cell system show marked cytological differences from the corresponding terminals of the outer hair cell system.     

Summary of legislation of 1935 of interest to the department of Mental Hygiene

Psychiatric Quarterly -     

Summary of legislation of 1941 of interest to the Department of Mental Hygiene

Psychiatric Quarterly -     

Asymmetry of on- and off-pathways of blue-sensitive cones of the retina of macaques

Macaque retinal ganglion cells whose receptive-field center recieves input from blue-sensitive cones show an overt asymmetry of the frequency of ON-center and OFF-center varieties, an asymmetry not present in ganglion cells whose center receives input from the other two cone types. A similar asymmetry of ON/OFF responses is found in the local electrotetinogram (d-wave) mediated by signals from blue-sensitive cones. ‘Blue-ON-center’ ganglion cells have larger receptive-field centers and shorter conduction latencies than other opponent-color varieties, suggesting an appreciable degree of receptor convergence and presumably large cell bodies. Intracellular stainings of these neurons with Procion Yellow show that they correspond to diffuse stratified (Parasol) ganglion cells whose flat-topped dendritic arborization stratifies in the sclerad half of the inner plexiform layer. In view of the known characteristics of macaque bipolar cells and of the ON/OFF asymmetry, it is proposed that these ganglion cells are postsynaptic to cone-specific flat bipolars possibly mediating sign-inverting synaptic contacts. The results also indicate a reversal, for the blue-cone pathway, of the ON/OFF lamination of the inner plexiform layer that has recently been described in other species.     

Mechanism of action of tubocurarine on nicotinic cholinoreceptors of neurons of the sympathetic ganglia of rats

Tubocurarine (Tc) effect on membrane currents elicited by acetylcholine (ACh) was studied in isolated superior cervical ganglion neurons of rat using patch-clamp method in the whole-cell recording mode. The "use-dependent" block of ACh current by Tc was revealed in the experiments with ACh applications, indicating that Tc blocked the channels opened by ACh. Mean lifetime of Tc-open channel complex, tau, was found to be 9.8 +/- 0.5 s (n = 7) at -50 mV and 20-24 degrees C. tau exponentially increased with membrane hyperpolarization (e-fold change in tau corresponded to the membrane potential shift by 61 mV). Inhibition of the ACh-induced current by Tc (3-30 microM/1) was completely abolished by membrane depolarization to the level of 80-100 mV. Inhibition of ACh-induced current was augmented at increased ACh doses. It is concluded that the open channel block produced by Tc is likely to be the only mechanism for Tc action on nicotinic acetylcholine receptors in superior cervical ganglion neurons of rat.