The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).     

Medical genetics: a marker for Stevens-Johnson syndrome

Stevens-Johnson syndrome and the related disease toxic epidermal necrolysis are life-threatening reactions of the skin to particular types of medication. Here we show that there is a strong association in Han Chinese between a genetic marker, the human leukocyte antigen HLA-B*1502, and Stevens-Johnson syndrome induced by carbamazepine, a drug commonly prescribed for the treatment of seizures. It should be possible to exploit this association in a highly reliable test to predict severe adverse reaction, as well as for investigation of the pathogenesis of Stevens-Johnson syndrome.     

Immunofluorescence of arginine deprived cells infected with adenovirus type 12

Susammenfassung KB-Zellen, die mit Adenovirus 12 infiziert waren und entweder in argininfreiem Medium oder in Medium, das 125 g/mll-Canavanin enthielt, gehalten wurden, entwickelten kein nukleares Antigen, das durch indirekte Immunofluoreszens ermittelt werden konnte.

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We thank Mrs.Rebecca Castleberry for her excellent technical assistance.     

鸽毛滴虫病原学,致病性和体外培养

首次报道我国鸽毛滴虫 Trichomonas columbae 的病原学、致病性和体外培养,共调查家鸽 470只,阳性270只,阳性率达58％。30只死亡的病鸽剖检示明上消化道有炎症、干酪样坏死和结节等病变。肝脏亦出现干酪状坏死块。少数病鸽的肺脏呈严重淤血。体外培养表明该虫在肝浸汤培养基生长最佳,其次为蛋黄浸液培养基。林格氏生理盐水培养生长最差。     

Integrated Process Capability Analysis

Process Capability Analysis (PCA) is a powerful too l to assess the ability of a process for manufacturing product that meets specific ations. The larger process capability index implies the higher process yield, a nd the larger process capability index also indicates the lower process expected loss. Chen et al. (2001) has applied indices C pu, C pl, and C pk for evaluating the process capability for a multi-process product wi th smaller-the-better, larger-the-better, and nominal-the-best spec...     

高碘酸钾氧化吖啶橙催化荧光法测定痕量锰

本文研究了在弱酸性介质中,以氨三乙酸为活化剂,高碘酸钾氧化吖啶橙;催化荧光法测定痕量锰的新体系.方法检出限为0.1ng/ml,线性范围为0～8.5ng/ml.该方法选择性好,操作简便.直接用于水样和人发样中锰的测定,结果满意.     

我国城市地籍信息系统研究

建立和应用“城市地籍信息系统”是我国城市地籍现代化管理最有效的途径之一。本文讨论了在我国建立和应用城市地籍信息系统的技术方法,以南京市一个小区为例,利用AST286微机和自动制图设备系统以及数据库管理系统MFOXPLUSE,建立了该区地籍信息系统。该系统具有快速查询、增加、删除、更改各类地籍信息,自动打印各类地籍报表和绘制各类地籍图的功能。该系统中的应用软件包可直接应用于我国城市地籍信息系统的建设工作。     

A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25

Lung cancer is the most common cause of cancer death worldwide, with over one million cases annually. To identify genetic factors that modify disease risk, we conducted a genome-wide association study by analysing 317,139 single-nucleotide polymorphisms in 1,989 lung cancer cases and 2,625 controls from six central European countries. We identified a locus in chromosome region 15q25 that was strongly associated with lung cancer (P = 9 x 10(-10)). This locus was replicated in five separate lung cancer studies comprising an additional 2,513 lung cancer cases and 4,752 controls (P = 5 x 10(-20) overall), and it was found to account for 14% (attributable risk) of lung cancer cases. Statistically similar risks were observed irrespective of smoking status or propensity to smoke tobacco. The association region contains several genes, including three that encode nicotinic acetylcholine receptor subunits (CHRNA5, CHRNA3 and CHRNB4). Such subunits are expressed in neurons and other tissues, in particular alveolar epithelial cells, pulmonary neuroendocrine cells and lung cancer cell lines, and they bind to N'-nitrosonornicotine and potential lung carcinogens. A non-synonymous variant of CHRNA5 that induces an amino acid substitution (D398N) at a highly conserved site in the second intracellular loop of the protein is among the markers with the strongest disease associations. Our results provide compelling evidence of a locus at 15q25 predisposing to lung cancer, and reinforce interest in nicotinic acetylcholine receptors as potential disease candidates and chemopreventative targets.     

Regioselective one-pot protection of carbohydrates

Carbohydrates are involved in a wide range of biological processes. These structurally diverse compounds are more complex than other biological polymers, and are often present as heterogeneous mixtures in nature. The chemical synthesis of carbohydrates is one way to obtain pure oligosaccharides, but it is hampered by difficulties associated with the regioselective protection of polyhydroxyls and challenges related to the stereoselective assembly of glycosidic linkages. Here we describe a combinatorial, and highly-regioselective, method that can be used to protect individual hydroxy groups of a monosaccharide. This approach can be used to install an orthogonal protecting group pattern in a single reaction vessel (a 'one-pot' reaction), which removes the need to carry out the time-consuming isolation and purification of intermediates. Hundreds of building blocks have been efficiently prepared starting from d-glucose, and the iterative coupling of these building blocks enabled us to assemble beta-1,6-glucans and a library of oligosaccharides based on the influenza-virus-binding trisaccharide.