Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 x 10(-12)) and rs801114 on 1q42 (OR = 1.28, P = 5.9 x 10(-12)). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.     

Identification of low-frequency variants associated with gout and serum uric acid levels

We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.1580C>G) in ALDH16A1 associated with gout (OR = 3.12, P = 1.5 × 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 s.d., P = 4.5 × 10(-21)). We confirmed the association with gout by performing Sanger sequencing on 6,017 Icelanders. The association with gout was stronger in males relative to females. We also found a second variant on chromosome 1 associated with gout (OR = 1.92, P = 0.046, at-risk allele frequency = 0.986) and serum uric acid levels (effect = 0.48 s.d., P = 4.5 × 10(-16)). This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits.     

导出矩阵与基底的正交化

给出导出矩阵的概念并利用它将Rn中任意一组基底正交化.     

二甲基亚砜中Dy和Co的电化学行为

利用循环伏安法和计时电流法研究了室温下Dy和Co在二甲基亚砜中的电化学行为Dy(Ⅲ)和Co(Ⅱ)在Pt电极上分别为一步不可逆还原为Dy(0),Co(0);研究了不同浓度的支持电解质对Dy(Ⅲ)的传递系数的影响;测定并得到0.01mol·dm     

两种消除Klebsiella pneumoniae重组型质粒的方法

对于工业发酵菌种肺炎克雷伯氏菌(Klebsiella pneumoniae),研究发现有两种消除其重组型质粒的有效方法,一种是连续传代培养,另一种是使用消除剂十二烷基硫酸钠(SDS)。对K.pneumoniae重组菌连续20代传代培养后,发现其质粒具有较高的消除率;而以0.2%SDS复合Ca2+处理K.pneumoniae重组菌,也能有效消除其重组型质粒,且该方法省却了反复的传代培养,能快速得到质粒消除菌,更具简便易操作性。消除了质粒的K.pneumoniae能再次接纳新的质粒,有效避免了因质粒不相容性带来的转化不成功,进而可用作宿主菌积累更多的生理性状。     

国内手机图书馆的现状与服务

手机通信的飞速发展,造就了手机图书馆的崛起,也为图书馆的发展开辟了新的服务领域。详细介绍了手机图书馆的发展情况、服务功能以及用户在移动图书馆中享受图书馆的短消息服务、Web手机上网服务等,探讨了3G时代进一步拓展手机图书馆服务功能的对策。     

基于Agent的农田生态细胞自动机模型

提出一种基于Agent的细胞自动机(CA)演化模型，并采用整体建模仿真的方法，对农田虫害的演化进行了模拟．它采用自底向上的建模思想，利用Agent的局部连接规则，建立复杂系统的整体模型．针对不同环境条件设定相应的仿真参数，可以得到恰当的害虫种群演化结果，有助于农田生态管理的科学决策．同时，农田虫害的管理是预测专家系统的重要应用领域，该模型与专家系统的最终集成，可以提高专家系统的预测能力．     

非线性映象的Mann迭代的收敛性与不动点

在可度量化拓扑线性空间中，讨论一些非线性映象的不动点与Mann迭代序列的收敛性问题，在一定条件下，得到了一些新的结果，推广和发展了Khan,Ghosh及Rhoades等人的工作。     

高位钻孔瓦斯抽采参数优化设计

基于采空区覆岩裂隙分布规律、覆岩裂隙瓦斯流动规律和高位钻孔抽采技术研究现状,从覆岩竖三带、O形圈和U型通风条件下采动裂隙瓦斯流动规律出发,找出高位钻孔的理论合理布置区域,指出工作面后方50m范围内覆岩裂隙发育状况是高位钻孔层位设计的关键,针对祁南煤矿32煤层的特点,结合现场采用数值模拟方法模拟不同开采速度条件下覆岩裂隙发育规律,优化设计高位钻孔的抽采参数,在34下2工作面和3410工作面的现场试验中,高位钻孔抽采浓度和抽采率得到大大提高,取得了较好的抽采效果,验证了研究的正确性。     

水溶液中Co-Sb薄膜的电化学沉积

采用电化学循环伏安法分析了柠檬酸水溶液中Co2+、SbO+的沉积电位,利用恒电位沉积的方法,在不锈钢基片上,从柠檬酸水溶液中沉积出Co-Sb薄膜.运用X射线衍射和扫描电子显微镜对薄膜的结构、组成以及形貌进行了分析.结果表明,在柠檬酸水溶液中,Co2+和SbO+可同时沉积到不锈钢基片上,形成Co-Sb薄膜,在不同的沉积电位下,薄膜形成不同的物相.薄膜的形貌呈现颗粒状,分布比较均匀.薄膜在充满Ar的管式炉中热处理2h,热处理温度为400℃,结果发现薄膜物相组成发生了很大变化,转变为主要由晶体CoSb3组成,还有少量的CoSb形成.