Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification

Idiopathic basal ganglia calcification (IBGC) is a rare neuropsychiatric disorder characterized by bilateral and symmetric cerebral calcifications. Recently, SLC20A2 was identified as a causative gene for familial IBGC, and three mutations were reported in a northern Chinese population. Here, we aimed to explore the mutation spectrum of SLC20A2 in a southern Chinese population. Sanger sequencing was employed to screen mutations within SLC20A2 in two IBGC families and 14 sporadic IBGC cases from a southern Han Chinese population. Four novel mutations (c.82G > A p.D28N, c.185T > C p.L62P, c.1470_1478delGCAGGTCCT p.Q491_L493del and c.935-1G > A) were identified in two families and two sporadic cases, respectively; none were detected in 200 unrelated controls. No mutation was found in the remaining 12 patients. Different mutations may result in varied phenotypes, including brain calcification and clinical manifestations. Our study supports the hypothesis that SLC20A2 is a causative gene of IBGC and expands the mutation spectrum of SLC20A2, which facilitates the understanding of the genotype–phenotype correlation of IBGC.     

卤虫投喂下长吻(鱼危)仔稚鱼消化酶发育和口宽变化的研究

采用酶学和形态学测定方法, 研究在投喂卤虫条件下长吻(鱼危)仔鱼4种主要消化酶: 胃蛋白酶、胰蛋白酶、脂肪酶和淀粉酶的活性变化以及长吻(鱼危)仔鱼口宽、全长变化。实验共进行13d, 实验结果表明: (1)长吻(鱼危)仔鱼全长、口宽的发育与其日龄表现出明显的线性正相关(R_TL²=0.974, R_MW²=0.964)。口宽与全长比值(MW/TL)在仔鱼开口后急剧下降, 并自7日龄开始维持在0.07—0.08, 口宽和全长处于同步发育期并表现出明显的相关性(R²=0.948), 说明7日龄(/h, days post hatching)后口宽和全长处于同步发育期, 标志仔鱼转食的开始。(2)长吻(鱼危)仔鱼初次开口时即可检测出四种消化酶的活性。5—7/h时胰蛋白酶显著高于初孵仔鱼, 与此时仔鱼开始开口摄食的行为相一致。胃蛋白酶、脂肪酶活性在仔鱼孵化后第7天即开口的第3天, 淀粉酶活性在孵化后第6天, 显著高于初次孵化出来的仔鱼。8—13/h时, 胃蛋白酶、胰蛋白酶、脂肪酶和淀粉酶活性均在较高水平平稳的波动, 标志着消化道发育逐渐健全。     

PSCA和Oct-4蛋白在眼睑基底细胞癌组织中的表达及其意义

目的 探讨PSCA和Oct-4蛋白在眼睑基底细胞癌组织中的表达及其意义.方法 收集武汉市中心医院和武汉大学人民医院病理科2002～2009年手术切除及活检的眼睑基底细胞癌（basal cell carcinoma,BCC）标本共20例,另取癌周围组织5例作对照.采用免疫组织化学方法观察各组细胞内PSCA和Oct-4蛋白的表达.利用图像分析系统测定PSCA和Oct-4蛋白在以上各组中表达的平均光密度和平均阳性面积率.结果 （1）PSCA的表达在眼睑基底细胞癌中,PSCA呈高表达,而癌周围组织中PSCA呈低表达.经q 检验,眼睑基底细胞癌组织与癌旁组织之间PSCA的平均光密度及阳性面积率的差异有显著性意义（P〈0.05）.（2）Oct-4的表达眼睑基底细胞癌组织中Oct-4蛋白呈高表达;癌旁组织中Oct-4蛋白呈低表达.图像分析结果显示：眼睑基底细胞癌组织与癌旁组织之间Oct-4蛋白的平均光密度及阳性面积率的差异有显著性意义（P〈0.05）.结论 在眼睑基底细胞癌组织中PSCA和Oct-4蛋白的高表达可能是＂癌干细胞＂,PSCA和Oct-4蛋白也许参与了眼睑基底细胞癌的发生和发展.     

Ezrin蛋白在眼睑基底细胞癌组织中的表达及其意义

目的探讨Ezrin蛋白在眼睑基底细胞癌组织中的表达。方法收集武汉市中心医院和武汉大学人民医院病理科2002—2009年手术切除及活检的眼睑基底细胞癌（basalcellcarcinoma,BCC）标本共20例,另取癌周围组织5例作对照。采用免疫组织化学方法观察各组细胞内Ezrin蛋白表达。利用图像分析系统测定Ezrin蛋白在以上各组中表达的平均光密度和平均阳性面积率。结果眼睑基底细胞癌组织中Ezrin蛋白呈高表达;癌旁组织中Ezrin蛋白呈低表达。图像分析结果显示：眼睑基底细胞癌组织与癌旁组织之间Ezrin蛋白的平均光密度及阳性面积率的差异有显著性意义（P〈0．05）。结论Ezrin蛋白在眼睑基底细胞癌的发生、发展过程中起了重要作用。     

衡阳紫色土丘陵坡地不同恢复阶段土壤基础呼吸及代谢熵的变化

采用空间序列代替时间序列的方法,对衡阳紫色土丘陵坡地不同过程中的不同土层、根际(Rhizosphere,R)与非根际(Non-rhizosphere,S)的土壤基础呼吸(Soil basal respiration,SBR)及代谢熵(Metabolic quotient,qCO2)的变化特征以及它们与土壤理化性质的关系进行研究。结果表明：(1)不同恢复阶段SBR与qCO2存在明显差异,从裸地(Ⅰ)、草本群落(Ⅱ)、灌木群落(Ⅲ)至乔木群落阶段(Ⅳ),SBR显著增强,qCO2显著减小,反映土地质量正在逐渐恢复;(2)不同恢复阶段SBR与qCO2存在垂直变化特征,从0～20cm、20～40cm至40～60cm土层, SBR显著减弱,qCO2显著增加;(3)从Ⅱ→Ⅳ,R与S变化明显,R与S的SBR均显著增强, R/S显著减小,表现出R＞S的特点,R与S的qCO2的逐渐减小, R/S逐渐上升,也表现出R＞S的特点,因此,创造更好的土壤条件有利于该区域植被恢复。     

Epigenetic variation in tissue cultured Gaura lindheimeri

High levels of variability were observed in tissue cultured Gaura lindheimeri genotypes when flowered in situ. Tissue culture treatments for chromosome doubling (colchicine: 0, 0.25, 1.25 mM; trifluralin: 0, 15, 30 μM) were all highly variable for morphological traits. Experiment No. 1 tested the tissue culture protocols used. In the first control (C1), plantlets were subcultured continuously. Nodes were excised and placed on solid medium for the second control (C2). In the third control (C3), nodes were excised and put in liquid medium for 24 h at room temperature. The fourth control (C4) was the same as the third control except liquid cultures were moved to 4°C for 48 h after treatment at room temperature. Experiment No. 2 examined the stability of the variation. Representative plants with different traits were selected for clonal propagation and grown in a replicated trial in the greenhouse. Several morphological traits (flower size, leaf length:width ratios, petal length:width ratios, and flower color) were measured. All of the controls had as much variability as the treated plants. Flower size of the first flower for plant number 01G-02 was significantly different in C1 compared with C3, but not with C2 and C4. Plant number 443-1 (white) was more stable in the replicated trial for the flower size than plant number 01G-02 (pink). All traits measured for plant number 01G-02 were unstable; most flower colors and patterns reverted back to the original color of the non-tissue cultured plants. The somaclonal variation observed was epigenetic in nature, indicating changes in DNA methylation. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Length-weight relationships of two varunid crab species, <Emphasis Type="Italic">Helice tridens</Emphasis> and <Emphasis Type="Italic">Chasmagnathus convexus</Emphasis>, in Japan

Estimates of biomass are essential for studies modeling the structure, animal growth, production, and energy flow in ecosystems. The relationships between dry weight and carapace width of two varunid crab species in two different populations were examined. Distribution of the length-weight plots did not show remarkable differences between species, sexes, and populations. Our results suggest that length-weight relationships, regardless of sex or population or including multiple species, are valid for estimation of dry weight.     

The α-galactosidase from Escherichia coli K12

Growth of Escherichia coli on melibiose requires the induced synthesis of α-galactoside permease and α-galactosidase. Hydrolysis of the chromogenic substrate p-nitrophenyl-σ-galactoside by whole bacteria is dependent on intact oxidative metabolism. The α-galactosidase from E. coli was isolated for the first time as a soluble enzyme. In cell-free extracts p-nitrophenyl-α-galactoside hydrolisis was observed only at high protein concentrations and the activity decreased exponentially with the square of the dilution. The reason for this behaviour was shown to be that, unlike other known α-galactosidases, the enzyme of E. coli requires NAD. For optimal activity the enzyme also requires Mn²⁺, a high concentration of 2-mercaptoethanol, and a pH of 8.1. The approximate molecular weight of the active from of α-galactosidase as determined by sedimentation in a sucrose gradient is 200 000. Due to the instability of the enzyme, its purification has not been achieved.     

LAP2 Proteins Chaperone GLI1 Movement between the Lamina and Chromatin to Regulate Transcription

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