Analysis of the mechanism of high incidence of thanatophoric dysplasia type I

致死性侏儒症（thanatophoric dysplasia,TD）是重型短肢畸形病中相对常见的致死性遗传性骨病,分为TD-I和TD-II 2型,它们都是由于FGFR3基因发生致死突变所致。TD-I型存在多种致病性突变,其中以c.742C〉T/p.R248C突变最为常见。本病为常染色体显性遗传（autosomal dominant,AD）,杂合突变即可致死,但为何表型、基因型正常的父母会生出带有p.R248C突变的患胎并且是纯合突变的死胎？如果是新生突变,又为何会接连数胎生出同样的患胎？p.R248C高发突变的机制是什么？本文重点围绕这些问题,从＂FGFR3（Fibroblast growth factor receptor 3）基因和FGFR3受体（Fibroblast growth factor receptor 3）的结构和功能,TD-I型p.R248C高发突变的发生机制,正常父母生出纯合致死突变的可能机制＂几方面进行剖析,指出：（1）FGFR3基因及其受体蛋白结构和功能的特殊性是高发突变发生的物质基础;（2）位于IgⅡ和IgⅢ结构域连接区的氨基酸是极性很强的亲水氨基酸,很容易与带电离子结合而影响α螺旋结构,故易受外来理化因素的攻击、诱变而发生改变;（3）正常父母生出纯合致死突变,推测有两种可能：一种是夫妇一方的生殖腺已带有该高发突变,当胎儿从亲代遗传了一次突变后,只需在另一位点上再发生一次新生突变即可产生;另一种是夫妇双方的生殖腺都是该突变的嵌合体,当两者结合在一起,就有可能产生纯合突变。此外,还对未来发展趋势进行了展望。本文旨在探讨c.742C〉T/p.R248C高发突变和纯合突变发生的机制,进而为其今后的诊断和防治工作提供理论依据。Thanatophoric dysplasia（TD）,divided into TD type I and TD type II,is a genetic bone disease caused by the fatal mutation of FGFR3 gene.It is relatively common lethal hereditary osteopathy among severe short limb malformations.TD-I type has many kinds of pathogenic mutations,of which c.742CT/p.R248 C mutation is the most common.This disease is an autosomal dominant（AD） genetic disease which means heterozygous mutations can be lethal.However,why some parents with normal genotypes and phenotypes can give birth to a stillbirth who carried the homozygous mutation p.R248C？ If it is a novel mutation,why the successive fetuses with the same mutation were born？ What is the high incidence mechanism of p.R248 C mutation？ This paper focus mainly around these problems,from＂The structure and function of FGFR3 gene and FGFR3 receptor;The pathogenetic mechanism of high incidence of p.R248 C in TD type I;The possible mechanisms of normal parents producing homozygous lethal mutation＂,several aspects are analyzed and pointed out：（1）FGFR3 gene and the structure and function of its receptor protein is the material base of high frequent mutation;（2） Some amino acids,located in the connected region of Ig Ⅱ and Ig Ⅲ domain,are strong polar hydrophilic amino acids,which tend to bind charged ions to influence the alpha helical structure,therefore,it is easy to be affected by external physical and chemical factors;（3） Normal parents give birth to fetus with homozygous lethal mutation,there are 2 possibilities：one is the reproductive gonad of one of the parents has carried the hot mutation,and the fetus inherited the hot mutation,under these circumstances,as long as a same mutation happen in its allele,which will lead to the generation of homozygous mutation;another is the reproductive glands of couples are the mutant chimeras,when the two are combined together,it is possible to generate homozygous mutation.In addition,the future development trend is prospected.The purpose of this paper is to explore th闽粤合作科研基金（71010025

Legal Restraint with the Right of Administrative Penalty Entrust

本文以行政处罚委托为切入点，通过对行政处罚委托的探讨，提出行政处罚委托权这一概念并对其进行特征和构成的界定，结合我国目前行政处罚委托的立法现状以及司法实践、社会实践中存在的问题，根据行政处罚委托权必须进行限制的法律依据和事实依据，从立法规范到实际适用中的问题出发进而提出行政处罚委托权在立法层面、实际适用和司法实践层面的建议，包括从行政处罚委托权的主体、事项、程序和责任承担等层面分析提出对行政处罚委托权的法律限制的具体措施。 本文分为四个部分，第一部分对行政处罚委托权的概念进行界定，提出其含义、特征及其构成；第二部分探讨限制行政处罚委托权的缘由和目的，分析其必须受到法律限制的法律依据和事实依...Based on the administrative punishment entrust , this article talks about what's right of administrative punishment entrust and definition of its characteristics and constitute which is through the commission of administrative punishment.Combined with China's current administrative punishment entrust by current situation of legislation and judicial practice and the practice of social problems.The ...学位：法学硕士院系专业：法学院法律系_宪法学和行政法学学号：1362009115020

Research advance in genetic diagnosis of monogenic inherited diseases

单基因遗传病(简称单基因病)种类、分型繁多,常规诊断难以确诊,而基因诊断技术在遗传病特别是单基因病的确诊、分型等方面都发挥着不可或缺的作用。近一、二十年来,基因诊断技术进展迅猛,各种检测方法层出不穷。本文重点围绕基因诊断技术的最新进展进行综述,以期对临床诊断和预防工作提供一些有益的启示。Monogenic diseases are caused by inheritance of single mutated gene, but the type of the diseases are diversified depending on the type and locus of genetic mutation inherited. While conventional laboratory methods may contribute to an initial identification, a definitive diagnosis and classification of these inherited disorders often need molecular/genetic testing. In the past twenty years, diagnostic techniques for the genetic disorders have rapidly advanced, leading to the invention of many laboratory tests for the detection of genetic disorders. In this article, we review the recent advance in the diagnostic modalities for the genetic disorders, in hope of setting light on improvement of the clinical diagnosis and prevention.国家自然科学基金(30772069);; 闽粤横向科研基金(71010025

Design and Implementation of Sales and Purchase System of Retail E-Commerce Company

随着网络技术的不断发展，互联网、移动端应用等新技术不断深入我们的日常生活，全球的各行各业都发生了巨大的变化，互联网技术更是对零售行业带来了巨大的挑战与机遇。近年来，线上零售业的兴起，改变了传统零售企业对商品结构、销售方式、销售定价等管理的方式方法，随着线上销售模式越来越成熟，越来越多的人群已经接受并习惯网络购物的生活方式，而伴随近年来宏观经济政策的收缩，传统线下的零售商面临着巨大的生存压力，考虑开展O2O(OnlinetoOffline)的商业模式，全面打通企业线上线下资源，已成为传统零售行业迫切需要解决的问题。 本文以零售行业电商企业的商品管理、商品采购及上架、线上商品销售等业务作为研究对...With the continuous development of network, the internet bring us more opportunity and challenge. In recent years, the online marketing becomes much more popular, and it have changed the traditional retail business mode. More and more people love the way of shopping on the internet, especially the girls and guys. The traditional offline retailers have to face the enormous pressure of survive, and ...学位：工程硕士院系专业：软件学院_工程硕士(软件工程)学号：X201323016

中国医疗卫生改革的出路——对江苏宿迁医改的反思

公共医疗卫生事业有着一般行业所没有的特殊使命,那就是保障一般公民的基本生存权。除此之外,还有个其他所有行业都不具备的特征,那就是医患双方之间信息的极度不平衡问题。所以,宿迁市将市内所属的各级医院机构全部由原来的公共部门转变为私人部门所有,从政府垄断走向私人垄断是行不通的

《自上而下的政策制定》评析

《自上而下的政策制定》是托马斯.戴伊的著作之一。本文侧重从公共政策制定过程的途径来逐步评析《自上而下的政策制定》的各个过程,随后就书中关于精英集团的一些过于绝对的说法提出了相关见解,最后以利益集团和媒体为例探讨了本书对我国目前的借鉴意义

Deign of MRI System Communication Module and Pulse Sequence Generation Module Based on FPGA

磁共振成像具有成像参数多、对比度高、对人体安全无损害等优点，磁共振成像如今发展成为当今世界医学诊断中最广泛以及最先进的影像技术之一。 在磁共振成像系统中，主控板是整个MRI仪器的中枢核心，主要包括通信模块和脉冲序列生成模块。其中，通信模块实现了与计算机的数据通信和数据存储；脉冲序列生成模块实现了指令的解析和脉冲序列的生成。本文围绕通信模块以及脉冲序列生成模块进行详细讨论和设计。 本文主要工作内容如下： 第一，针对磁共振成像系统中主控板的设计，提出了采用纯硬件的方式对脉冲序列生成模块进行设计的方案，对作为主控板的FPGA开发板进行选型。对开发板进行相关的硬件模块设计以及用SOPCBuild...MRI has many advantage such as many imaging parameters, high contrast, more safe and no damage to human body, MRI become one of the most widly used and most advanced in medical diagnosis in today’s world. Main control board is the central core of the MRI system. It includes communication module and pulse sequence module. The communication module realizes the data communication with computer and d...学位：工程硕士院系专业：物理科学与技术学院_工程硕士(电子与通信工程)学号：3312013115284

云南省玉龙县天保工程森林生态系统服务功能价值评估

参照LY/T 1721—2008《森林生态系统服务功能评估规范》,结合云南省玉龙县天保工程森林生态服务功能特点,借鉴国内外对森林生态系统服务功能研究成果,筛选评价指标并建立指标体系;利用玉龙县森林资源清查报告、玉龙县天保工程基础数据、玉龙县林业统计年报、玉龙县统计年鉴、已有生态监测研究成果等资料,对天保工程1998年至2015年森林生态系统服务功能价值进行评估。结果表明:1998年至2015玉龙县天保工程区森林生态系统服务功能总价值约为4 945.15亿元。从变化趋势看,其总价值随时间推移呈上升趋势。最后根据评价结果得出相应的政策启示。国家自然科学基金项目(71273215)资

Loop Closure Detection Algorithm Based on Greedy Strategy for Visual SLAM

动态环境与视觉混淆严重影响视觉闭环检测性能.基于贪心策略,提出了一种在线构建视觉词典的闭环检测算法.算法优先处理Surf描述与已有单词Surf描述欧式距离最大的特征点,改进特征点与单词Surf描述最近邻的约束条件,生成了表征性能强、量化误差小的视觉词典,算法具备实时性,并在动态环境图像集与视觉混淆多发生的图像集上,在确保100%,准确率的条件下,最大召回率分别提升了5%,与4%,.The performance of loop closure detection is seriously affected by dynamic objects and perceptual aliasing in the environment. Based on greedy strategy, a real-time loop closure detection approach using online visual dictionary is proposed. The process of dictionary construction gives priority to dealing with Surf feature that has the maximum Euclidean distance from the closest vocabulary word. A more discriminative and representative visual vocabulary is produced through adding constraint condition to the nearest neighbor distance. This visual vocabulary guarantees a small quantization error. The proposed approach meets real-time constraints. Experiments based on datasets from dynamic environments and visually repetitive environments demonstrated that the largest recall rate increased by 5% and 4% respectively at 100% precision. © 2017, Editorial Board of Journal of Tianjin University(Science and Technology). All right reserved.国家自然科学基金资助项目(61274133). Supported by the National Natural Science Foundation of China(61274133

The Applicability of Climate of the Traditional Residential Architecture in Fujian and Taiwan

福建与台湾的气候条件极其类似,又加之台湾传统民居传承于福建传统建筑民居,福建之民居建筑不经较大的修改就能够适应台湾地理条件气候,自福建传统民居进驻台湾已历数百年,台湾传统民居经过长期的发展,其与福建传统民居的差异并没有变大,闽台的气候条件极为类似是其重要因素之一。本文通过对闽台地理环境诸因素的分析,从降水、气温、光照、风四个角度入手,阐述了闽台的气候对传统建筑的影响。Fujian and Taiwan is very similar climatic conditions,but also combined with Taiwan's traditional houses traditional architectural heritage houses in Fujian,Fujian's residential building without major modifications will be able to adapt to Taiwan's geographical and climatic conditions,stationed in Taiwan from Fujian traditional houses have been enumerated centuries,Taiwan after long- term development of traditional houses,traditional houses with Fujian difference was not large,the climatic conditions are very similar between Fujian and Taiwan is an important factor.Based on Fujian geographical analysis of various factors,from precipitation,temperature,light,wind four angles,elaborated Fujian climate impact on traditional architecture