Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.     

废弃羽毛资源化利用研究进展

综述了废弃羽毛资源化利用的方式和途径,对微波法促进废羽毛制备氨基酸及资源化利用进行了展望.指出了改善即时控制,加强微波化学反应及机理的研究,并继续羽毛水解后固体废物的资源化利用是其主要研究发展方向.     

原子核电四极矩跃迁强度新经验公式

通过分析8≤Z≤100偶偶原子核电四极矩跃迁强度B(E2:0+→2+)与2+态激发能E(2+)实验数据,提出了原子核电四极矩跃迁强度新经验公式B(E2:0+→2+)=33.65Z2 A-0.71 E-1(2+).     

预应力T梁产生裂纹的原因及处理

分析了京大高速公路工程预应力砼T梁在冬季施工中产生裂纹的原因，指出通过修改部分钢筋设计，将抽拔管改为波纹管，以及加强各工序规范施工即可避免裂纹的产生，同时对已有裂纹的处理办法进行了探讨。     

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Three microphthalmia/anophthalmia loci have been identified, and two others have been inferred by the co-segregation of translocations with the phenotype. We previously found that mice with ocular retardation (the or-J allele), a microphthalmia phenotype, have a null mutation in the retinal homeobox gene Chx10 (refs 7,8). We report here the mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning of CHX10 at this locus and the identification of recessive CHX10 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and severe abnormalities of the iris. In affected individuals, a highly conserved arginine residue in the DNA-recognition helix of the homeodomain is replaced by glutamine or proline (R200Q and R200P, respectively). Identification of the CHX10 consensus DNA-binding sequence (TAATTAGC) allowed us to demonstrate that both mutations severely disrupt CHX10 function. Human CHX10 is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina. The strong conservation in vertebrates of the CHX10 sequence, pattern of expression and loss-of-function phenotypes demonstrates the evolutionary importance of the genetic network through which this gene regulates eye development.     

TGF—β1和HSP70在大鼠肝癌早期诊断中的价值探讨

目的：通过动态检测大鼠肝癌模型造模各阶段血清中TGF—β1和HSP70水平并与传统指标AFP比较,对其在肝癌早期诊断中的价值做综合的评价。方法：用CCL4诱导大鼠肝硬化基础上的肝癌模型。从造模第6周起,每两周心脏采血一次,ELISA法检测大鼠血清中TGF-β1、HSP70和AFP水平,并取部分肝组织行病理学检查。结果：造模第8周发生肝硬化,第10周发生不典型增生及早期肝癌结节。造模第10周TGF-β1和HSP70水平即显著升高,TGF-β1在肝硬化阶段无显著升高,而HSP70则略微有升高,二者特异性分别为90％和60％,阳性率分别为55％和70％,联合检测的阳性率为80％,造模第12周的阳性率分别达85％和90％,联合检测阳性率达100％;AFP水平在造模第12周才有显著升高,肝硬化阶段也有升高并与早期肝癌无显著性差异。其阳性率和特异性分别为60％和30％。结论：传统指标AFP对极早期的肝癌不敏感,特异性不高,而TGF-β1和HSP70均较AFP敏感、特异,二者联合可提高检测敏感性。     

DLG生成和编辑中有关问题的探讨

简述了几种数字线划图(DLG)的获取途径和方法，并对各种方案的优劣进行了简单比较．着重介绍了利用全数字摄影测量系统生成DLG，并转换、编辑建库的一整套方法。