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Jingdong book

双语教材·国外经典医学教材改编/影印系列：医学遗传学（附光盘1张）

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Jingdong book

双语教材·国外经典医学教材改编/影印系列：医学遗传学（附光盘1张）

Name: 双语教材·国外经典医学教材改编/影印系列：医学遗传学（附光盘1张）
Brand: Jingdong book
SKU: 3101003861
Price: 50.28 USD
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《医学遗传学》供医学各专业本科生、留学生、长学制、研究生双语教学使用。全球权威医学教材，适应国内双语教学。

Content Description

《Thompson＆Thompson医学遗传学》是遗传学领域里一本广受读者、学者肯定和喜爱的教材。本书作为国内第一本医学遗专学中英文双语教材改编自其全新的第7版，在延续原著易读和易于理解的基础上，把人类医学遗传学的经典理论与现代分子遗传学相结合，全面介绍了分子诊断、人类基因组计划、遗传药理学、发育遗传学和肿瘤遗传学方面的最新进展，有助于您诊断和治疗常见遗传病，更好地理解基础遗传学与临床医学之间的关系。
美国医学会杂志(JAMA)强烈推荐本书，称其为“写得最好的遗传学教材”。本书也是国内多所高等院校研究生考试推荐的必读参考书。

Catalogue

第1章引言
遗传医学和基因组医学
展望

第2章人类基因组和遗传的染色体基础
人类基因组和染色体
细胞分裂
人类的配子发生和受精
有丝分裂和减数分裂的医学意义

第3章人类基因组：基因的结构和功能
人类基因组的组成
中心法则：DNA→RNA→蛋白质
基因的组成与结构
基因表达的基础
基因表达的动态调节：β-珠蛋白基因的表达
基因组基因的调控和变化
基因表达的变异及其与疾病的关系

第4章人类分子遗传学研究的方法
个体DNA和RNA序列的分析
核酸分析方法
聚合酶链式反应
DNA序列分析
用数码图像捕捉荧光标记的核苷酸的先进技术
蛋白质印迹分析

第5章临床细胞遗传学原理
细胞遗传学导论
染色体畸变
亲本来源的影响
人类减数分裂中的染色体行为
盂德尔遗传病的细胞遗传学效应
癌症的细胞遗传学分析

第6章临床细胞遗传学：常染色体病和性染色体病
常染色体病
性染色体及其畸变
性腺和性别发育异常遗传病

第7章单基因遗传病
概述
孟德尔遗传
影响系谱的因素
基因型和表型的相关性
孟德尔遗传的常染色体方式
X-连锁遗传
假常染色体遗传
镶嵌现象
系谱中的印记效应
不稳定性重复扩增
假孟德尔单基因遗传方式的情况
线粒体基因组突变引起的母系遗传病
个性化医疗中的家族史

第8章常见复杂遗传病的遗传学
质量性状和数量性状
单基因遗传病的遗传学和环境修饰因素
已明确了遗传和环境因素的多基因病举例

第9章个体和群体的遗传变异：突变及多态性突变
突变类型及其相应后果
人类遗传的多样性
遗传的变异和DNA多态性
遗传的变异和蛋白质多态性
群体的基因型和表型
影响Hardy-Weinberg平衡的因素
种族或民族之间各种遗传病发病率的差异

第10章人类基因的定位和疾病基因的鉴定
人类基因组的遗传学全貌
连锁分析定位人类基因
复杂性状的基因定位
从基因定位到基因鉴定

第11章分子病原理：血红蛋白病
突变影响蛋白质功能
突变如何干扰蛋白质的正常生物学结构
血红蛋白
血红蛋白病

第12章遗传病的分子、生化和细胞基础
各种不同蛋白质突变所引起的疾病
酶病
受体蛋白缺陷病
转运缺陷病
结构蛋白疾病：
神经退行性疾病

第13章遗传病的治疗
遗传病治疗的现状
遗传病治疗的特殊要求
治疗策略
遗传病的分子治疗

第14章发育遗传学与出生缺陷
医学发育生物学
发育生物学导论
发育涉及的基因和环境
发育生物学的基本概念
发育的细胞和分子机制
胚胎发生中发育机制的相互协调

第15章产前诊断
有创性产前诊断的适应证
产前诊断的方法
实验室研究
新涌现的产前诊断技术
遗传病的产前预防和治疗
产前诊断的遗传咨询

第16章肿瘤遗传学和基因组学
癌症的遗传学基础
癌基因
肿瘤抑制基因
肿瘤的发展过程
基因组学在个性化癌症治疗中的应用
癌症与环境

第17章个性化遗传医学
个性化遗传医学的家族史
群体的遗传学筛查
疾病遗传易感性的筛查

第18章药物遗传学和药物基因组学
应用风险信息改善治疗：药物遗传学
药物基因组学
个性化医疗中的种族或民族差异

第19章遗传咨询和风险评估
遗传咨询的过程
确定再发风险
应用分子遗传学确定再发风险
经验再发风险

第20章医学遗传学的伦理问题
医学遗传学的伦理困境
医学遗传学的优生学和劣生学效应
遗传医学
词汇
习题答案
索引

Book Abstract

Progress in identifying genes responsible for multi-factorial nonsyndromie CL（P） has come from the study ofrare single-gene forms of syndromic CL（P）. These includeX-linked elefting with ankyloglossia （tethering of tongueby short or anterior frenulum） and two forms of autoso-real dominant clefting, one associated with missing teethand the other with infertility and anosmia （inability tosmell）. These three mendelian forms of syndromic clef-ting result from mutations in two transcription factorgenes, TBX1 and MSX1, and in the gene FGFR1, whichencodes a cell signaling molecule. The most striking find-ing, however, is that a variety of rare mutations have nowbeen found in all three of these genes in patients from avariety of different ethnic backgrounds who appear tohave nonsyndromic CL（P）. The frequency of mutation inCL（P） patients is approximately 5％ for TBX1, approxi-mately 2% for MSX1, and 1％ for FGFR1. In all cases,investigation of additional family members may discloseaffected individuals with more typical features of the syn-dromes associated with mutations in that gene. Anothertranscription factor gene, IRF6, in which mutations causethe syndromic form of CL（P） known as Van tier Woudesyndrome, is also involved in nonsyndromic clefting. Vander Woude syndrome has pits in the lower lip in 85% ofpatients, but 15% may present only with cleft lip or pal-ate. What is very likely, however, is that these genes re-present only a fraction of the total genetic contribution tothis birth defect and that marked locus and allelic hetero-geneity will be the rule. It is unknown to what extent themajority of CL（P） patients will turn out to have the de-fect because of rare alleles at additional single loci, or be-cause of multifactorial interactions between more commonalleles at many loci. Finally, maternal smoking is a wellrecognized risk factor for CL（P）.

Introduction

尽管对目前盛行的我国高等医学教育实行双语、英语教学的做法存在许多不同的争论和意见，但似乎前进的脚步并没有停止。因为这毕竟是我国的医学教育尽快接轨国际一流以培养高级医学人才的需要。然而，绝大多数的医学课程仍然没有合适的双语教材。就我们所从事的《医学遗传学》或《遗传医学》课程教学来说，几乎所有已开展双语教学的高等院校，都是采用不匹配的一套英文教材和一套中文教材的做法，给广大师生的教和学带来显而易见的不便，严重影响了教学效果。因此，出版合适的双语教材，应该是实施正确的双语教学的第一步。本书出版的目的正在于此。
由Nussbaum、Mclnnes和Willard三位教授主编的《Thompson ＆Thompson Genetics in Medicine（第7版）》（2007）为美国绝大多数医科院校的通用教材，当然应该是医学遗传学双语教材的首选。为了克服英、中双语带来的页数增多、成本上涨问题，我们采取了以下主要措施，以利于广大师生的使用：
1.所有的对应中文翻译内容全部置于本书所附的cD中，仅将每章的重点或难点段落印刷出来。
2.全书采用黑白印刷而非英文版的彩色印刷（所有英文版彩图、插图和照片均包括在CD中），并压缩有关插图的尺寸，适当缩小全书的字号。
3.将英文版中央部分列举的疾病病案“Clinical Case Studies IIIustrating Genetic Principles”，以及每章后的参考文献置于CD中。
4.书末的“Index”部分尽量只保留英文版的一级索引。
通过上述方法，我们力争在英文版全书585页的基础上，使双语版控制在最少的页码以内，却不影响英文版的全貌和正常使用。

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