Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism

Heterozygous mutations in the gene for the Kit transmembrane receptor have been identified recently in human piebaldism and mouse "dominant spotting." Interestingly, all of the 14 known missense mutations that cause depigmentation in these species map to the tyrosine kinase domain of the receptor, whereas none have involved the extracellular ligand-binding domain. In an attempt to detect these uncommon mutations, we screened the nine exons encoding the extracellular portion of Kit for single-strand conformation polymorphisms (SSCP) in eight piebald subjects previously reported to be negative for kinase mutations. Four of these eight kindreds proved to carry novel mutations. The first mutation, found in two apparently unrelated probands with mild piebaldism and English ancestry, substitutes an arginine for a highly conserved cysteine at codon 136. This substitution disrupts a putative disulfide bond required for formation of the second Ig-like (D2) loop of the Kit ligand-binding domain. The second mutation, detected in a piebald kindred characterized by unusually limited depigmentation, substitutes a threonine for an alanine at codon 178, a site just proximal to conserved cysteines at codons 183 and 186. The third mutation, occurring in a kindred with more extensive depigmentation, is a novel four-base insertion in exon 2 that results in a proximal frameshift and premature termination. The data strongly suggest that piebaldism can result from missense mutations in the Kit ligand-binding domain, although the resulting phenotype may be milder than that observed for null or kinase mutations. The apparent clustering of these uncommon mutations at or near the conserved cysteines for the D2 Ig-like loop further suggests a critical role for this region in Kit receptor function.     

Is Evolution Algorithmic?

In Darwin’s Dangerous Idea, Daniel Dennett claims that evolution is algorithmic. On Dennett’s analysis, evolutionary processes are trivially algorithmic because he assumes that all natural processes are algorithmic. I will argue that there are more robust ways to understand algorithmic processes that make the claim that evolution is algorithmic empirical and not conceptual. While laws of nature can be seen as compression algorithms of information about the world, it does not follow logically that they are implemented as algorithms by physical processes. For that to be true, the processes have to be part of computational systems. The basic difference between mere simulation and real computing is having proper causal structure. I will show what kind of requirements this poses for natural evolutionary processes if they are to be computational.     

基于R树的空管GIS数据模型索引的设计

地理信息系统(GIS,Geographic Information System)是人们时客观世界理解经过一系列处理后在计算机上一种数字化.图像化的实现.对于复杂现实世界,一方面人们希望GIS包含充足的数据.另一方面又期望从中能方便地选择所需要的数据,为尽可能地包含信息,又要能方便快速选取,这就要求人们以一种高效的数据组织方式--GIS数据模型.GIS的一个特性就是海量的空间数据,为达到快速查询目的对其进行空间索引是必然的.而R树于1984年Guttman提出以来被广泛的运用于原型研究和空间数据库系统中.笔者介绍了一种基于R树的空间GIS数据模型索引的设计(基于R树的内存索引).     

Microstructure of SiCp-reinforced A356 cast Al metal-matrix composite

The microstructure of SiCp-reinforced A356 cast Al metal-matrix composite (MMC) has been investigated by means of transmission electron microscopy and energy-dispersive X-ray analysis. It is found that the MMC contains -SiC, ( + ₂) SiC composite, eutectic Si, GP zones of Si sequence, a new J phase and the amorphous phase Al _x Si₉Ca₂. The ₂-SiC is lathlike with a triclinic crystal structure having a=0.308 nm, b=0.305 nm, c=1.262 nm, = 93.8 °, = 90.0 °, and = 60.0 °. The J phase is bulk-like with a C-face-centred orthorhombic crystal structure having a = 0.680 nm, b = 1.170 nm and c = 0.826 nm.     

水源切换期用户水质跟踪监测及铁稳定性分析

针对北方某市水源切换对典型地区实际给水管网铁稳定性的影响开展试验研究。选取2个小区用户各1家,对其管网出水水质进行连续10个月的跟踪监测。结果表明,在本次水源切换过程中,管网水的SO42-有较大幅度变化,平均从25 mg/L增加到75 mg/L,之后又降至45 mg/L;造成管网出水的浊度和总铁有所增加,部分监测值超出饮用水标准,最高达到6 NTU和1.2 mg/L。不同小区管道铁稳定性存在明显差异,管网水中铁含量和浊度具有一定的线性关系。分析水源切换前后不同时期管网出水水质的变化,得出SO42-与管垢铁释放有较好的相关性。     

Cu-Cr-Zr合金线材织构研究

通过分析合金取向分布函数（ODF）及其反极图, 研究了塑性加工率与时效处理过程对Cu-Cr-Zr合金线材织构组分及其择优程度的影响;分析了Cu-Cr-Zr合金线材织构组分及其变化与材料性能的对应关系. 认为以{111}为主要组分的纤维织构有利于提高线材强度, 较大的道次加工量可以提高线材纤维织构组分的锐度. 高铜Cu-Cr-Zr合金具有良好的塑性, 可以采用40%以上的道次加工率进行线材加工, 以得到较高的{111}纤维织构. 合理安排中间时效处理与最终塑性加工工艺, 可以大幅度提高Cu-Cr-Zr合金线材的导电率, 获得具有理想综合性能的Cu-Cr-Zr合金.     

喷射成形高速钢中残余奥氏体的X射线衍射定量分析

文章阐述了X射线残余奥氏体定量分析的基本原理.经过对马氏体相和奥氏体相的衍射线的分别标定,选定马氏体和奥氏体的一条衍射线,分别测出它们的累积强度,用残余奥氏体定量分析公式来计算残余奥氏体体积百分含量.利用X射线衍射残奥定量测定方法,对喷射成形高速钢圆坯中残余奥氏体含量进行了测定,阐明了喷射成形圆坯密度变化的原因和机理,同时还对喷射成形过程中圆坯的冷却条件对残余奥氏体量的影响进行了合理的分析.为喷射成型新材料的工艺研究,提供了一种新的测试手段.     

4-羟基苯甲酸-2′-辛酯的合成

以对羟基苯甲酸为起始原料 ,经羟基保护、酯化和脱羟基保护三步反应 ,合成了难以用传统酯化法制备的 4 羟基苯甲酸 2′ 辛酯 ,总收率 6 5 % ,产物结构经IR及MS鉴定。     

Relationship between the Undrained Shear Strength, Water Content, and Mineralogical Properties of Fine-Grained Soils

The relationship between the undrained shear strength of fine-grained soils and the water content can be described with a nonlinear function in which the type of soil is determined by two parameters. It is well known that these parameters depend mainly on the mineral compositions of soils; these relationships, however, have not yet been investigated. The findings described in this paper define those mineralogical properties of soils which determine the values of both parameters. Experimentally obtained results suggest that the parameters primarily depend on the size of the clay minerals, their quantity in soil composition, and the interlayer water quantity in the expanding clay minerals. As this dependence is well defined, the parameters, and thus the undrained shear strength at different water content, can be defined from knowledge of these mineralogical soil properties.