人类基因组（原著第3版）（导读版） 下载 pdf 百度网盘 epub 免费 2025 电子书 mobi 在线

随着遗传这一话题在健康事业和公共政策中的作用与日俱增，遗传研究领域获得的新进展正在不断对个人和社会产生着越来越重要的潜在影响。为了易于接触和交流当代科学**进展，这本彻底修订的《人类基因组》旨在为不同科学背景的专业人士和学生营造一个临床和科学研究的遗传学术氛围。

目录

Ⅰ 基因如何决定性状

1 遗传的基础：性状如何在家庭中传递 3

1.1 孟德尔定律 4

1.2 选择：人工，自然和性选择 12

1.3 人类遗传多样性 15

1.4 人类显性遗传 16

1.5 人类隐性遗传 19

1.6 遗传互补 27

1.7 上位效应和基因多效性 31

1.8 复杂性症状 32

1.9 一个人的疾病是另一人的性状 34

2 双螺旋：细胞如何保存遗传信息 41

2.1 细胞的内幕 42

2.2 DNA：遗传信息的存储器 44

2.3 DNA和双螺旋 47

2.4 DNA复制 50

2.5 染色质 56

2.6 什么是染色体？ 57

2.7 常染色质和异染色质 64

2.8 线粒体的染色体：人类基因组中的另一个“基因组” 65

2.9 DNA的体外研究 67

Ⅱ 基因如何行使功能

3 分子生物学的中心法则：细胞如何编排使用遗传信息 83

3.1 什么是RNA？ 84

3.2 RNA是做什么的？ 87

3.3 RNA转录 89

3.4 表达的编排 91

3.5 检测基因表达 95

3.6 转录因子的相互作用 98

3.7 可诱导基因 102

3.8 基因表达的表观调控 104

3.9 什么是“正常”？ 106

4 遗传密码：细胞如何从编码在mRNA分子中的遗传信息产生出蛋白质 115

4.1 遗传密码 116

4.2 细胞核内外的物质传递 119

4.3 分子生物学的中心法则 120

4.4 翻译 120

4.5 信使RNA结构 122

4.6 剪切 124

4.7 模块化的基因 128

4.8 什么是蛋白质？ 130

4.9 基因产物与发育 135

5 我们都是突变体：突变如何改变功能 143

5.1 什么是突变？ 144

5.2 突变的产生 147

5.3 如何检测突变 153

5.4 主要突变类型 159

5.5 调节基因表达的DNA序列突变 166

5.6 拷贝数变异：好东西的过多或过少 167

5.7 重复序列扩增 169

5.8 男性的生命时钟 180

5.9 **的突变目标 180

5.10 突变导致的功能缺失与损害 183

Ⅲ 染色体如何移动

6 有丝分裂和减数分裂：细胞如何变动你的基因 199

6.1 细胞周期 200

6.2 有丝分裂 201

6.3 配子生成：减数分裂都实现了什么？ 207

6.4 减数分裂细节 211

6.5 减数分裂中染色体配对机制 217

6.6 遗传的染色体基础 219

6.7 非整倍体：染色体数目过多或过少 224

6.8 单亲二体性 230

6.9 部分非整倍性 236

6.10 女性的生命时钟 238

附录6.1 减数分裂分离失败(不分离) ：遗传的染色体理论之证据 240

7 特殊的一对：X与Y染色体如何打乱了规则 247

7.1 X和Y染色体在世代间的传递 248

7.2 人类如何应付男女之间性染色体数目的差别 249

7.3 如何实现X染色体失活 250

7.4 倾斜的X染色体失活——大部分细胞失活相同的X染色体 251

7.5 逃过X染色体失活的基因 255

7.6 失活X染色体在女性种系细胞中的激活 255

7.7 X染色体在男性减数分裂期间的失活 255

7.8 X染色体失活与性染色体非整倍性表型 257

7.9 人类Y染色体结构 259

7.10 X连锁的隐性遗传 262

7.11 X连锁的显性遗传 265

Ⅳ 基因如何影响复杂性状

8 性别决定：基因如何做出发育的选择 273

8.1 性别：一个复杂的发育性状 274

8.2 X和Y染色体与性别的关系 278

8.3 Y染色体上的SRY：雄性分化的遗传决定因素 279

8.4 激素在早期发育中的作用 282

8.5 X染色体上的雄性激素受体：性别分化通路中的另一环节 285

8.6 性别鉴定的遗传学 287

8.7 性取向的遗传学 288

9 复杂性：多因子组合如何产生性状 299

9.1 双基因二等位基因遗传 300

9.2 双基因三等位基因遗传 304

9.3 多因子遗传 305

9.4 数量性状 307

9.5 加性效应和阈值 309

9.6 这是遗传的吗？ 310

9.7 基因和环境：可诱导性状 312

9.8 基因和环境：感染性疾病 315

9.9 拟表型 319

9.10 基因型的兼容性：谁的基因组受影响？ 322

9.11 表型异质性：一个基因，多种性状 324

9.12 基因型和表现型的异质性 325

9.13 可变的表型表现性 328

9.14 表型修饰因子 329

9.15 复杂性背后的生化通路 331

9.16 行为遗传学 334

9.17 基因表达：复杂性的另一层次 337

10 多次打击假说：基因如何引起癌症 343

10.1 抗癌之战 344

10.2 癌症：一种细胞周期调控的缺陷 345

10.3 癌症：一种基因病 346

10.4 癌症和环境 348

10.5 肿瘤抑制基因与两次打击假说 348

10.6 肿瘤抑制基因缺陷的细胞特异性 352

10.7 多次打击假说 353

10.8 原癌基因的激活和癌基因在致肿瘤发生中的作用 355

10.9 DNA修复的缺陷 357

10.10 个体化医学 358

10.11 癌症的生物标志物 361

Ⅴ 怎样发现基因

11 基因猎取：如何建立和使用遗传图谱 369

11.1 什么是遗传图谱？ 370

11.2 什么是遗传标记？ 372

11.3 在有图谱之前发现基因 378

11.4 确定定位内容 380

11.5 以重组来衡量遗传距离 382

11.6 物理图谱和物理距离 388

11.7 遗传图谱是如何绘制的？ 393

11.8 图谱之后做什么？ 396

12 人类基因组：DNA序列如何启动全基因组的研究 405

12.1 人类基因组计划 406

12.2 人类基因组序列 416

12.3 其他的基因组计划 418

12.4 人类基因组中的基因 420

12.5 人类基因组的变异 428

12.6 全基因组技术 432

12.7 全基因组关联分析 433

12.8 等位基因共享和同胞对分析 439

12.9 拷贝数变异和基因剂量 440

12.10 全基因组测序 443

Ⅵ 基因在检测和治疗中的作用

13 遗传检测和筛查：基因型如何提供重要信息 455

13.1 什么是医学遗传学 457

13.2 筛查相比较于测试 459

13.3 胚胎植入前遗传筛查 461

13.4 妊娠首三个月的产前诊断 463

13.5 妊娠中三个月的产前诊断 465

13.6 羊膜腔穿刺和绒膜绒毛取样 466

13.7 胎儿细胞分析 469

13.8 性别选择 473

13.9 新生儿筛查 474

13.10 成年人遗传筛查和检测 475

13.11 道德、法律和社会问题 480

14 基于基因的治疗如何实现医学个体化 487

14.1 替换丢失的基因或功能——RPE65 的故事 488

14.2 替换丢失的基因ADA——缺陷 492

14.3 以疾病病理的下游为治疗靶标 493

14.4 抑制有害的基因型——siRNAs 和miRNAs 的使用 495

14.5 基因补充治疗——增加相同的东西 497

14.6 癌症治疗策略 498

14.7 基于基因的治疗代替基因疗法 500

14.8 基因疗法的导入 502

14.9 我们需要全身的治疗吗？ 503

14.10 基因治疗的**问题是什么？ 505

14.11 我们治疗哪些病人？ 506

15 担忧、信任和期望：过去和现状如何决定基因组医学的未来 513

15.1 担忧：一段优生学的荒诞记录 514

15.2 信任：一个关于伦理、法律和社会进步的故事 518

15.3 期望：一个对于我们基因的未来想象 522

思考题答案 527

词汇表 553

索引 575

Contents

Acknowledgments xi

Prologue: The Answer in a Nutshell xiii

I

HOW GENES SPECIFY A

TRAIT

1 The Basics of Heredity: How Traits Are Passed Along in Families 3

1.1 Mendel’s Laws 4

1.2 Selection: Artifi cial， Natural， and Sexual 12

1.3 Human Genetic Diversity 15

1.4 Human Dominant Inheritance 16

1.5 Human Recessive Inheritance 19

1.6 Complementation 27

1.7 Epistasis and Pleiotropy 31

1.8 Complex Syndromes 32

1.9 One Man’s Disease Is Another Man’s Trait 34

2 The Double Helix: How Cells Preserve Genetic Information 41

2.1 Inside the Cell 42

2.2 DNA: The Repository of Genetic Information 44

2.3 DNA and the Double Helix 47

2.4 DNA Replication 50

2.5 Chromatin 56

2.6 What Are Chromosomes? 57

2.7 Euchromatin and Heterochromatin 64

2.8 The Mitochondrial Chromosome: The “Other Genome” in the Human Genome 65

2.9 DNA in vitro 67

II

HOW GENES FUNCTION

3 The Central Dogma of Molecular Biology: How Cells Orchestrate the Use of Genetic Information 83

3.1 What Is RNA? 84

3.2 What Is RNA For? 87

3.3 Transcription of RNA 89

3.4 Orchestrating Expression 91

3.5 Monitoring Gene Expression 95

3.6 Interaction of Transcription

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SECTION I

　　HOW GENES SPECIFY A TRAIT

　　CHAPTER 1

　　The Basics of Heredity: How Traits Are Passed Along in Families

　　OUTLINE

　　1.1 Mendel Laws 4

　　What Mendel Did 5

　　Concept: What Passes from One

　　Generation to the Next Is Information 7

　　Concept: Dominant Alleles Mask the

　　Detection of Recessive Alleles 8

　　Concept: One Allele Comes from Each

　　Parent; One Allele Passes to Each Child 9

　　1.2 Selection: Artificial， Natural， and Sexual 12

　　Artificial Selection 13

　　Natural Selection 13

　　Sexual Selection 14

　　1.3 Human Genetic Diversity 15

　　1.4 Human Dominant Inheritance 16

　　1.5 Human Recessive Inheritance 19

　　Albinism Is Recessive 20

　　Albinism and Carriers 22

　　Transmission of Albinism in Families 22

　　There Are Many Recessive Traits 23

　　Pseudo-dominant Inheritance of a Recessive Trait 25

　　1.6 Complementation 27

　　1.7 Epistasis and Pleiotropy 31

　　1.8 Complex Syndromes 32

　　1.9 One Man Disease Is Another Man Trait 34

　　THE READER COMPANION: AS YOU READ， YOU SHOULD CONSIDER

　　 Different historical models that explain how heredity works.

　　 The importance of other organisms as models for the study of human inheritance.

　　 What gets passed from one generation to the next that results in inheritance.

　　 The concept of allelic differences.

　　 The relationship between genotype and phenotype.

　　 The implications of having two copies of a gene but passing along only one.

　　(Continued)

　　 The concept of dominance and the ability of one allele to mask another.

　　 The concept of recessive inheritance of a trait from parents who lack that trait.

　　 The effects on inheritance if a trait can be caused by more than one gene.

　　 Epistasis and alleles that over-ride detection of what another gene is doing.

　　 Pleiotropy and the ability of a gene to have multiple effects.

　　 The difference between syndromes and traits affecting a single tissue type.

　　 The sociopolitical implications of putting labels on phenotypes.

　　We suspect that people have been curious about how heredity works ever since they figured out where babies came from. It is important to note that our current sophistication in these matters is of fairly recent origin. There is an old saying that “like begets like，” but this seemingly obvious knowledge that children will be like their parents might have been surprising to some ancient Greeks who wrote about the progeny that resulted from mating members of different species， such as swans and sheep.

　　Farmers have long known that animal offspring often appeared to be a mixture of both of their parents. Thousands of years ago it was proposed that children resulted from a blending process， the mixing of maternal blood and paternal semen derived from blood， with all aspects of the organism being represented in the semen and the menstrual blood. Many others saw blending as involving some essential essence or particles coming from every part of each parent， but each offered a slightly different mechanism.

　　For long periods in our history， many people imagined that children were the offspring of only one parent (either the mother or the father). Some thought that babies were preformed in the father and sailed in sperm down the vaginal canal into awaiting uterine incubators. Drawings dating back to the seventeenth century show the tiny preformed individuals (now known as homunculi) that the early microscopists imagined they saw inside sperm. There were other schools of thought in which children were preformed only in their mothers; the father was thought to provide only a “vital spark” (much like jump-starting a dead battery). By the mid-nineteenth century， most people were willing to accept the concept that the traits observed in children were some mix of those observed in both parents and in both sets of grandparents.

　　In many cases， this was thought of in terms of a blending model of inheritance. Although there are many situations in which blending is not the best model of what is happening， blending was a concept that was easy to understand. If you mix red paint and white paint， you get pink paint， so why would such a mechanism not explain intermediate skin tones in someone who has one dark-skinned parent and one lightskinned parent? People imagined that there was some kind of substance， such as blood， that blended in the offspring to produce a mixture of traits in the child. (Note the term “blood relative，” which implies a shared ancestry， not relationship by marriage.)

　　Still， there were some surprises that blending did not explain: blue-eyed kids born to browneyed parents， blond children of raven-haired moms and dads， kids who are taller than either parent， and so on. Blending， although it made some sense for some traits such as height and weight， did not explain many traits.

　　It was into this rather curious intellectual environment that Gregor Mendel w

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书籍介绍

《生命科学新经典:人类基因组(原著第3版)》随着遗传这一话题在健康事业和公共政策中的作用与日剧增，遗传研究领域获得的新进展正在不断对个人和社会产生着越来越重要的潜在影响。为了易于接触和交流当代科学最新进展，这本彻底修订的《人类基因组》旨在为不同科学背景的专业人士和学生营造一个临床和科学研究的遗传学术氛围。《生命科学新经典:人类基因组(原著第3版)》以大量图解和实例刻画描述了一系列遗传学的热门主题和疾病研究的最新进展，对于学生和专业人士而言都是非常宝贵的学术资源。