Multiple origins for phenylketonuria in Europe

Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). PKU is a highly heterogeneous disorder, with more than 60 molecular lesions identified in the PAH gene. The haplotype associations, relative frequencies, and distributions of five prevalent PAH mutations (R158Q, R261Q, IVS10nt546, R408W, and IVS12n1) were established in a comprehensive European sample population and subsequently were examined to determine the potential roles of several genetic mechanisms in explaining the present distribution of the major PKU alleles. Each of these five mutations was strongly associated with only one of the more than 70 chromosomal haplotypes defined by eight RFLPs in or near the PAH gene. These findings suggest that each of these mutations arose through a single founding event that occurred within time periods ranging from several hundred to several thousand years ago. From the significant differences observed in the relative frequencies and distributions of these five alleles throughout Europe, four of these putative founding events could be localized to specific ethnic subgroups. Together, these data suggest that there were multiple, geographically and ethnically distinct origins for PKU within the European population.     

钐在小鼠肝脏细胞中的动态观察

It is generally considered that the rare earth compounds are plasma membrane-impermeable, thus affecting the cells only on their surface. Recently, we found that after repeated injections to mice of large dose of samarium trichloride, a soluble compound of rare earth, samarium aggregates appeared in Kupffer cells and hepatocytes of liver. In this study, we aimed at observing the route by which samarium enters the liver cells and the process of the formation of samarium aggregates. Samarium trichloride was given to Swiss mice at one dose of 70 mg/kg intravenously. Thereafter, at different intervals from 15 min to 48 h after the injection, the samarium in liver was traced dynamically by electron microscopy and X ray microanalysis. From 15 min to 2 h both Kupffer cells and hepatocytes endocytosed samarium-containing particles and formed phagosomes, in which the ingested particles were progressively concentrated. Besides, the small phagosomes fused with each other. Phagocytosis was especially active in Kupffer cells. During the 4 h to 24 h many Kupffer cells were degenerated and broken. In hepatocytes the phagosomes gathered mostly around the bile canaliculi. Groups of highly electron-dense particles were found in the lumen of bile canaliculi, implying the excretion of samarium by bile. At the 48 h, the samarium-containing phagosomies were found still in both kinds of cells in the liver.     

三水盆地早白垩世白鹤洞组的被子植物花粉*

系统描述了区内早白垩世白鹤洞组的被子植物花粉,11属20余种.结合前人研究成果,对一些容易混淆的属种作了区分性的讨论.据所发现的被子植物花粉的组合面貌,将白鹤洞组归人中晚阿尔必期.     

辽宁辽阳晚寒武世崮山组树形笔石

笔石发现于辽宁辽阳兰家晚寒武世崮山组 Drepanura 带,他们为 Dendrograptus liaoyangensis sp. nov., Dendrograptus liaoyangensis latus subsp. nov., Callograptus lanjiaensis sp. nov., Callograptus sp. A, Callograptus sp. B.,这是我国已知最低层位的笔石.     

新疆温泉煤田早、中侏罗世孢粉组合及其地层意义*

新疆温泉煤田艾肯拜尔段和柯克它乌组的孢粉化石,计有42属59种.根据孢粉类型和含量变化等特征,建立2个孢粉组合(自下而上):1. Dictyophyllidites-Chordasporites-Jugasporites 组合;2. Cyathidites-Neoraistrickia-Pseudopicea 组合.第一组合产于艾肯拜尔段,时代可能为早侏罗世,第二组合产于柯克它乌组,时代暂定为早、中侏罗世.根据孢粉组合反映的植物群面貌是:裸子植物非常茂盛,其中以松柏纲为主,蕨类植物较少(包括真蕨纲植物);反映的古气候属于温暖湿润的亚热带型.     

广东南雄盆地上湖组介形类动物群及白垩-第三系界线

南雄盆地上湖组介形类可划分为2个性质不同的动物群及4个化石带:下部为 Porpocypris 动物群,是以中生代属种为主,中、新生代属种混生的过渡性动物群,时代为晚白垩世最晚期;上部为 Cypris 动物群,以 Cypris 属占优势, Sinocypris 属开始出现, Cypridea 等古老属种绝灭为主要特征,时代为早—中古新世.根据介形类演化发展阶段和白垩纪末生物绝灭事件,南雄盆地白垩系与第三系的界线应划在 Porpocypris 与 Cypris 动物群之间,即上湖组坪岭段与下惠段之间.     

中三叠世多板类在我国的首次发现

报道我国首次发现的三叠纪多板纲(Polyplacophora)鳞肋目(Lepidopleurina)鳞肋科(Lepidopleuridae)的—新属——中国石鳖(Sinochiton).新属保存较完整,贝体中等大,椭圆形,长宽比为1.44∶1;中间板宽远大于壳长,长方形,半圆形拱凸,壳顶不突出,后缘近直,中心区十分宽大,侧区很窄,或不明显,缝合片及嵌插板不发育;贝体具圆形环带.新属与菊石 Balatonites 共生,时代属 Anisian 期.新属与北美下二叠统的 Ochmazochiton Hoare, 1984 及宾夕法尼亚系的 Pedanochiton Debrock, Hoare et al 近似,它们之间可能存在着亲缘关系.     

Trigonodus Nieper,1969(牙形刺)属名无效

Nieper(1969)依据澳大利亚 Queenslaad 西部 Nora 组(下奥陶统)的标本以 Trigonodus triangularius Nieper 1969 为模式种,建立了牙形刺新属 Trigonodus. Cooper(1981)将 Nieper 的形式属 Trigonodus 修正为器官属,包括 PM Sa Sb Sc Sd 分子,并将此属的模式种改为 Trigonodus larapintinensis (Crespin, 1943). Cooper 的观点被很多牙形刺专家接受, Trigonodus 属名也被广泛引用在牙形刺文献中 (Stauge, 1984;安泰庠、郑昭昌,1990),     

Stable Defined Substrate for Turbidimetric Assay of Endoxylanases

A stable xylan suspension was prepared and characterized. Hydrolysis of the particles converts them into soluble fragments, thereby lowering the turbidity of the suspension. The small volume of the assay mixture, the short incubation time required, and the simplicity of the procedure permit the rapid analysis of many samples. Furthermore, the procedure can be used to assay xylanase activities in the presence of other reducing materials and is also useful for monitoring low-level xylanase activities.