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Yami

Jingdong book

临床遗传学

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临床遗传学

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《临床遗传学》共分两部分。第一部分着重介绍医学遗传学的基本理论,包括遗传和遗传病的细胞及分子基础、孟德尔遗传和孟德尔遗传病、多基因遗传病的分子基础、线粒体遗传病的分子基础、肿瘤遗传学和药物遗传学等章节;第二部分逐一介绍各系统常见遗传病的临床表现、诊断、治疗、预后,尤其着重介绍各典型病例的遗传方式和再发风险估计。本书既为临床医师提供了一本诊断和治疗各种常见遗传病的参考手册,又可使各科医师的遗传咨询服务“有据可依”。全书内容翔实,论述简明扼要,实用性强,力求体现现代医学最新研究成果在临床实践中的直接应用。
Catalogue

第一章 遗传和遗传病的细胞及分子基础
第一节 生殖细胞遗传一配子形成与受精/1
一、减数分裂/1
二、精子和卵子的生成/4
三、受精/5
第二节 遗传的细胞基础——人类染色体/6
一、染色质与染色体/6
二、染色体的形态结构/7
三、染色体数目及分组/7
四、核型的描述/9
第三节 染色体畸变/11
一、染色体畸变产生的原因/11
二、染色体畸变的类型/12
三、染色体异常的流行病学/23
四、染色体病的诊断/23
五、染色体检查指征/24
六、染色体病的遗传咨询/24
第四节 常见的染色体病/27
一、21三体综合征/27
二、18三体综合征/31
三、13三体综合征/33
四、猫叫综合征/35
五、先天性睾丸发育不全综合征/37
六、先天性卵巢发育不全综合征/38
七、脆性x染色体综合征/40
第五节 遗传的分子基础/44
一、DNA复制/44
二、DNA的突变和损伤修复/47
第六节 基因的表达和表观遗传学调控/50
一、遗传信息的表达/50
二、基因表达的表观遗传学调控/57
三、表观遗传学与人类疾病/61

第二章 孟德尔遗传和孟德尔遗传病
第一节 系谱与系谱分析/64
第二节 遗传基本规律与孟德尔遗传方式分类/65
一、遗传学基本规律/65
二、孟德尔遗传方式分类/66
第三节 常染色体显性遗传/66
一、常染色体显性遗传特点/66
二、常染色体显性遗传类型/66
第四节 常染色体隐性遗传/70
第五节 性染色体连锁遗传/71
一、x连锁隐性遗传/71
二、x连锁显性遗传/72
三、Y连锁遗传/73
第六节 影响单基因病分析的一些因素/73
一、遗传印迹/73
二、遗传异质性与基因多效性/74
三、遗传早现/75
四、x染色体失活/75

第三章 多基因遗传病的分子基础
第一节 数量遗传的多基因假说/77
一、数量性状与质量性状/77
二、数量性状的多基因遗传特点/79
第二节 多基因遗传病的遗传学特点/80
一、易患性与发病阈值/80
二、遗传度与其估算/81
三、多基因遗传病的一些特点/82
四、多基因遗传病复发风险估计/82
第三节 多基因遗传病的研究技术和研究进展/85
一、关联研究/86
二、连锁分析/86

第四章 线粒体疾病的遗传基础
第一节 线粒体遗传病的传递和发病规律/89
一、mtDNA的结构特征/89
二、mtDNA的遗传特征/91
三、mtDNA突变与人类疾病/92
第二节 线粒体遗传病的临床症状与基因突变/95
一、Leber遗传性视神经病/95
二、MERRF综合征/95

第五章 肿瘤和遗传
第一节 染色体不稳定综合征和遗传性肿瘤综合征/98
一、染色体不稳定综合征/98
二、遗传性肿瘤综合征/102
第二节 染色体畸变与肿瘤/106
一、肿瘤染色体的数量改变/106
二、肿瘤染色体的结构畸变/106
三、肿瘤的染色体理论/108
一、病毒癌基因和细胞癌基因/109
二、原癌基因的特点/110
三、原癌基因的分类和功能/110
四、原癌基因的激活机制/111
第四节 肿瘤抑制基因与肿瘤/113
一、抑癌基因产物的功能/113
二、抑癌基因失活的途径/114
三、抑癌基因的作用机制/115
第五节 表观遗传学与肿瘤/116
一、DNA甲基化与肿瘤/117
二、基因组印迹与肿瘤/118
三、组蛋白修饰与肿瘤/120
四、表型遗传修饰改变假说/122
第六节 端粒与肿瘤/122
一、端粒的结构及功能/122
二、端粒酶的结构和功能/124
三、端粒和端粒酶与癌症的关系/124
第七节 肿瘤发生的遗传学说/125
一、肿瘤的单克隆起源假说/125
二、肿瘤的多步骤遗传损伤学说/126
三、两次打击假说/127

第六章 药物遗传学
第一节 药物反应的遗传学基础/129
一、遗传变异与药物应答/129
二、遗传多态性/130
三、药物代谢酶/131
四、药物转运蛋白/133
五、药物受体/134
第二节 药物基因组学与个体化医疗/137
一、药物基因组学的发展/137
二、单核苷酸多态性与药物相关基因/137
三、药物基因组学和个体化合理用药/139
四、药物基因组学与新药研发/140

第七章 遗传咨询和产前诊断
第一节 遗传咨询的对象和步骤/141
一、遗传咨询对象/141
二、遗传咨询步骤/142
三、遗传咨询注意事项/142
第二节 咨询的种类和目的/143
一、婚前咨询/143
二、生育咨询/143
三、一般咨询/144
四、行政部门咨询/144
第三节 再发风险估计/144
一、单基因病的基因型已推定者,再发风险按孟德尔定律推算/144
二、如果双方或一方的基因型未知,这时则要利用家系资料或其他有关数据,用逆概率定律(Bayes定律)来推算/144
三、与咨询者商讨对策/146
四、遗传登记和随访/146
第四节 遗传咨询的病例举例/146
第五节 产前诊断的指征/146
第六节 细胞遗传学诊断方法/146
一、经典细胞遗传学诊断方法/146
二、分子细胞遗传学诊断方法/148
第七节 分子遗传诊断方法/151
一、限制性片段长度多态性/151
二、聚合酶链反应/152
三、DNA测序/153
四、DNAT芯片/155
第八节 生化遗传诊断方法/155
一、酶和蛋白质分析/155
二、代谢产物分析/155
第九节 产前诊断的临床技术/156
一、x线检查/156
二、超声波检查/156
三、绒毛膜取样/157
四、羊膜腔穿刺术/158
五、脐带穿刺术/158
六、胎儿镜检查/159

第八章 先天畸形和生化代谢性疾病
第一节 出生缺陷的类型及发生因素/161
一、出生缺陷的类型/161
二、出生缺陷的发生因素/162
第二节 出生缺陷的诊断和预防原则/170
一、神经管缺陷的诊断/171
二、先天性心脏病的诊断/175
三、出生缺陷预防原则/178
第三节 氨基酸代谢病/179
一、苯丙酮尿症/179
二、眼皮肤白化症/182
三、瓜氨酸血症/183
四、酪氨酸血症/186
第四节 糖代谢病/187
一、半乳糖血症/187
二、糖原贮积症/190
三、黏多糖贮积症/193
四、戈谢病/219
第五节 嘌呤代谢病/221
Leseh-Nyhan综合征/221

第九章 神经系统遗传病
第一节 神经系统遗传病的症状与诊断/225
一、临床症状/225
二、诊断/227
第二节 常见神经系统遗传病/229
一、遗传性周围神经病/229
二、遗传性共济失调/249
三、遗传性痉挛性截瘫/258
四、染色体畸变综合征/266
五、线粒体遗传病/266
六、遗传代谢病/266
七、核苷酸重复序列动态突变性遗传病/266
八、发作性疾病/283
九、帕金森病与遗传/304

第十章 遗传性血液疾病
第一节 概论/324
一、贫血/324
二、遗传性出血隆疾病/325
第二节 遗传性红细胞系统疾病/326
一、造血功能异常所致贫血——Faliconi贫血/326
二、铁代谢异常——遗传性血色病/327
三、DNA台成障碍所致贫血/328
四、红细胞膜先天性缺陷贫血——遗传性球形红细胞增多症/329
五、红细胞酶缺乏贫血(葡糖-6-磷酸脱氢酶缺乏症)/330
六、珠蛋白合成异常的贫血/335
第三节 遗传性出血性疾病/338
一、遗传性血管异常性出血性疾病一遗传性毛细血管扩张症/338
二、遗传性血小板异常性出血性疾病/341
三、遗传性凝血因子缺陷性出血性疾病/341
四、遗传性或先天性纤溶系统异常/345

第十一章 内分泌系统遗传病
第一节 垂体性侏儒/348
一、遗传病理学/348
二、临床特征/349
三、诊断/349
四、治疗/350
五、预后/350
六、风险评估/350
第二节 散发性克汀病/351
一、遗传病理学/351
二、临床特征/351
三、诊断/351
四、治疗/352
五、预后/353
六、风险评估/353
第三节 先天性肾上腺皮质增生/353
一/遗传病理学/354
二、临床特征/356
三、诊断/357
四、治疗/359
五、预后/360
六、风险评估/360
第四节 糖尿病/360
一、遗传病理学/361
二、临床特征/362
三、诊断/364
四、治疗/365
五、预后/368
六、风险评估/368
第五节 尿崩症/369
一、遗传病理学/369
二、临床特征/369
三、诊断/370
四、治疗/371
五、预后/371
六、风险评估与预防/371
第六节 睾丸女性化综合征/371
一、遗传病理学/372
二、临床特征/372
三、诊断/373
四、治疗/373
五、预后/374
六、风险评估/374


第十二章 泌尿生殖系统遗传病
第一节 泌尿系统遗传病/375
一、遗传性肾小球疾病/375
二、遗传性肾小管疾病/386
三、多囊性肾脏病/395
四、伴肾脏损害的多系统综合征/406
五、遗传性泌尿系统发育异常和肿瘤/408
六、其他遗传性肾脏病/412
第二节 生殖系统遗传病/413
一、睾丸疾患/413
二、卵巢疾患/415
三、性分化异常/419

第十三章 遗传性皮肤病
第一节 鱼鳞病/425
一、寻常性鱼鳞病/425
二、性连锁鱼鳞病/426
三、大疱性先天性鱼鳞病样红皮病/427
四、板层状鱼鳞病/427
五、非大疱性先天性鱼鳞病样红皮病/428
第二节 毛囊角化病/429
一、遗传病理学/429
二、临床特征/429
三、诊断/429
四、治疗/429
五、预后/430
六、风险评估/430
……
第十四章 呼吸系统遗传性疾病
第十五章 消化系统遗传病
第十六章 遗传与精神疾病
Book Abstract

培养基或普通培养基加氟尿嘧啶脱氧核苷(FUdR),氨甲蝶呤等药物可诱导X脆性部位(Xq27.3 )表达。一般有3%~5%以上的细胞表达脆性x染色体即为阳性。有资料报道,在进行脆性X染色体分析前,应用10分评分法对XLMR患者进行筛选,可使约半数的患者免于进行脆性X染色体分析,提高脆性X位点阳性个体的检出率。当评分为8~10分时,脆性x染色体阳性率可达67%。我校医学遗传教研室采用此法对127例原因不明x连锁智力低下患者进行脆性X染色体研究,发现52例(409%)脆性X综合征患者。当评分为8~10时,诊断阳性率上升至64.3%。在用脆性X染色体分析进行诊断时,应注意假阳性和假阴性结果(图1.37)。
2.基因检测PcR对正常范围的CGG重复序列和较小重复序列的前突变有很高的敏感性,但不能扩增出全突变和较大重复序列的前突变,一般情况下,当PCR在男性扩增出1个正常范围或前突变片段,在女性扩增出2个片段(正常范围,中间范围或前突变),不再需要Southeml印迹进一步证实,但有时复杂的细胞嵌合体患者PCR方法会产生假阴性。因此PCR对全突变只能进行间接诊断。应用与Fra(X)基因位点紧密连锁的基因探针进行限制性片段长度多态(RFLP)分析可诊断外显的患者、不外显的男性和女性携带者。
Introduction

医学科学是生命科学的重要组成部分,基础医学和临床医学又是医学的重要组成部分。医学科学依赖于其他自然科学的发展。基础医学教育与临床医学实践的有机结合,是医学教育学家和广大临床医学工作者多年关注而尚未很好解决的问题。在我国,尽管已经形成了相对独立的基础医学与临床医学相结合的教育体系,但基础医学教材主要依靠基础学科专家编写,教学计划分为基础教学和临床教学两个相对独立的阶段,使基础医学和临床医学教学在时间和讲授方面易于脱节,难以体现各学科理论知识的系统性和完整性,对全面掌握医学科学知识甚为不利。我国是一个发展中的人口大国,由于历史的原因,医学和医学教育的发展与国外发达国家仍有一定差距,特别是基础医学研究差距较大,临床医学的发展与国外比较接近,甚至某些方面还具有优势,但我们临床中所用的药物、诊断仪器与试剂大都来自国外,我国的临床医师能够从解读生命现象的本质和疾病的发展规律从事临床医学实践活动者较少,中、青年医师更是如此。
随着自然科学的快速发展,基础医学和临床医学各学科在相互依赖、相互渗透、共同发展的同时,又有各自的发展特征,迫切需要给临床医师提供新的基础知识和从临床角度应用基础知识解决问题的能力。为了整合基础医学与临床医学知识,卫生部教材办公室和人民卫生出版社组织国内相关学科专家编写了《临床基础医学精读系列》丛书,该套丛书不同于传统教材和大型学术专著,力求体现“精读”和“实用”,贴近临床,同时体现“科学性”和“创新性”的结合,贯彻“逆向思维和横向思维”于编写过程之中。

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You will not be able to activate the gift card deals if you choose other payment methods besides gift card. The products will be purchased at their normal prices;

If your account balance is not enough to pay for the products with gift card deals, you can choose to reload your gift card balance by clicking on the Reload button at either shopping cart page or check out page;

Products that have gift card deals can be recognized by a special symbol showing 'GC Deal';

For any additional questions or concerns, please contact our customer service;

Yamibuy reserves the right of final interpretation.

Sold by Yami

Service Guarantee

Yami Free Shipping over $49
Yami Easy Returns
Yami Ships from United States

Shipping

  • United States

    Standard Shipping is $5.99 (Excluding Alaska & Hawaii). Free on orders of $49 or more.

    Local Express is $5.99 (Available in Parts of CA, NJ, MA & PA). Free on orders of $49 or more.

    2-Day Express (Includes Alaska & Hawaii) starts at $19.99.

Return Policy

Yami is committed to provide our customers with a peace of mind when purchasing from us. Most items shipped from Yamibuy.com can be returned within 30 days of receipt of shipment (For Food, Beverages, Snacks, Dry Goods, Health supplements, Fresh Grocery and Perishables Goods, within 7 days of receipt of shipment due to damages or quality issues; To ensure that every customer receives safe and high-quality products, we do not provide refunds or returns for beauty products once they have been opened or used, except in the case of quality issues; Some products may have different policies or requirements associated with them, please see below for products under special categories, or contact Yami Customer Service for further assistance).
Thank you for your understanding and support.

Learn More

Sold by Yami

Terms and Conditions of Yami E-Gift Card

If you choose “Redeem automatically” as your delivery method, your gift card balance will be reload automatically after your order has been processed successfully;

If you choose “Send to Email”as your delivery method, the card number and CVV will be sent to the email address automatically;

Any user can use the card number and CVV to redeem the gift card, please keep your gift card information safely. If you have any trouble receiving email, please contact Yami customer service;

Yami gift card can be used to purchase both Yami owned or Marketplace products;

Yami gift card will never expire;

Yami gift card balance does not have to be used up at once;

All rights reserved by Yami.

Return Policy

Gift card that has already been consumed is non-refundable.

Sold by JD@CHINA

Service Guarantee

Yami Free Shipping over $49
Yami Easy Returns
Yami Ships from United States

Shipping

  • United States

    Standard Shipping is $5.99 (Excluding Alaska & Hawaii). Free on orders of $49 or more.

    Local Express is $5.99 (Available in Parts of CA, NJ, MA & PA). Free on orders of $49 or more.

    2-Day Express (Includes Alaska & Hawaii) starts at $19.99.

Return Policy

You may return product within 30 days upon receiving the product. Items returned must be new in it's original packing, including the original invoice for the purchase. Customer return product at their own expense.

Sold by JD@CHINA

Service Guarantee

Yami Cross-store Free Shipping over $69
Yami 30-days Return

Yami-China FC

Yami has a consolidation warehouse in China which collects multiple sellers’ packages and combines to one order. Our Yami consolidation warehouse will directly ship the packages to your door. Cross-store free shipping over $69.

Return Policy

You may return products within 30 days upon receiving the products. Sellers take responsibilities for any wrong shipment or missing items. Packing needs to be unopened for any other than quality issues return. We promise to pack carefully, but because goods are taking long journey to destinations, simple damages to packaging may occur. Any damages not causing internal goods quality problems are not allowed to return. If you open the package and any quality problem is found, please contact customer service within three days after receipt of goods.

Shipping Information

Yami Consolidation Service Shipping Fee $9.99(Free shipping over $69)

Sellers in China will ship their orders within 1-2 business days once the order is placed. Packages are sent to our consolidation warehouse in China and combined there. Our Yami consolidation warehouse will directly ship the packages to you via UPS. The average time for UPS to ship from China to the United States is about 10 working days and it can be traced using the tracking number. Due to the pandemic, the delivery time may be delayed by about 5 days. The package needs to be signed by the guest. If the receipt is not signed, the customer shall bear the risk of loss of the package.

Sold by JD@CHINA

Service Guarantee

Free shipping over 69
Genuine guarantee

Shipping

Yami Consolidated Shipping $9.99(Free shipping over $69)


Seller will ship the orders within 1-2 business days. The logistics time limit is expected to be 7-15 working days. In case of customs clearance, the delivery time will be extended by 3-7 days. The final receipt date is subject to the information of the postal company.

Yami Points information

All items are excluding from any promotion or points events on Yamibuy.com

Return Policy

You may return product within 30 days upon receiving the product. Items returned must be new in it's original packing, including the original invoice for the purchase. Customer return product at their own expense.

Yami

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Jingdong book

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About the brand

Jingdong book