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Jingdong book

医学遗传学学习与解题指南(第2版)

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医学遗传学学习与解题指南(第2版)

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《医学遗传学学习与解题指南》章节的编排主要参照普通高等教育“十五”国家级规划教材《医学遗传学》(李璞主编)和华中科技大学出版的《医学遗传学》教材(付四清主编)。是作者在总结多年的教学经验和成果的基础上编写而成的。其突出的特点是:根据教学大纲的要求,用精练、准确的文字写出各章要求掌握的内容。既可以指导学生复习。又可以作为教师授课的主要依据。《医学遗传学学习与解题指南》有名词解释、填空题、选择题(A型题、B型题、X型题)、计算题、简答题、问答题6种题型.并有各类自测题的正确答案,可供学生在课后复习时自我检测对所学知识的掌握程度,同时也可让学生熟悉常用的考试题型。《医学遗传学学习与解题指南》共分三部分:理论课学习指导与习题、实验指导和医学遗传学英文习题库(medicalgencticsproblemspool)。全书重点突出,覆盖面广,分析归纳条理清楚。内容系统全面。
《医学遗传学学习与解题指南》可作为七(八)年制学生、本(专)科学生学习医学遗传学的辅导教材;对于自学者和有志攻读硕士学位研究生的青年。《医学遗传学学习与解题指南》更是良师益友;对于参加成人教育、自学考试的读者。也不失为一本有指导价值的参考书;对于从事医学遗传学教学的教师,亦有一定的参考价值。
Catalogue

第一章 绪论
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第二章 遗传的细胞学基础
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第三章 遗传的分子基础
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第四章 单基因遗传
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第五章 线粒体遗传病
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第六章 多基因病
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第七章 人类染色体和染色体病
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第八章 群体遗传学
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第九章 人类疾病的生化与分子遗传学
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十章 基因操作
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十一章 基因定位
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十二章 人类基因组计划
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十三章 遗传病的诊断
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十四章 遗传病的治疗
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十五章 遗传病的预防
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十六章 肿瘤遗传学
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案

第十七章 药物遗传学
学习要点
SUMMARY
KEY CONCEPTS
习题精选
参考答案
英文综合试题
STUDY QUESTIONS 1
ANSWERS AND EXPLANATIONS
STUDY QUESTIONS 2
ANSWERS AND EXPLANATIONS
STUDY QLJESTIONS 3
ANSWERS AND EXPLANATIONS
STUDY QUESTIONS 4
ANSWERS AND EXPLANATIONS
STUDY QUESTIONS 5
ANSWERS AND EXPLANATIONS

实验指导
实验一 人类外周血淋巴细胞培养及染色体标本制备
实验二 人类非显带染色体核型分析
实验三 人类染色体G显带技术
实验四 人类染色体G显带核型分析
实验五 染色体异常病例分析
实验六 染色体荧光原位杂交
实验七 人类基因组DNA的提取
实验八 琼脂糖凝胶电泳
实验九 SRY基因的检测
实验十 致病基因的RFLP连锁分析
Book Abstract

一、医学遗传学医学遗传学是医学与遗传学相互渗透的一门边缘学科,它是遗传学知识在医学中的应用。是现代医学的一个新领域。医学遗传学研究人类疾病与遗传的关系,主要研究遗传病的发病机制、传递规律、诊断、治疗和预防等,从而降低人群中遗传病的发生率,提高人类的健康素质。
医学遗传学的研究对象是人类,它是人类遗传学的一门重要分支学科,人类遗传学是研究人类遗传与变异的科学,它研究人类形态、结构、生理、生化、免疫、行为等各种性状的遗传与变异规律、人类群体的遗传规律。以及人类遗传性疾病的发生机制、传递规律和预防等。医学遗传学着重研究人类疾病与遗传的关系,而侧重研究,临床各种遗传病的检出、诊断、治疗和预防等的则称为临床遗传学。
二、遗传病
(一)遗传病的概念遗传病是指由遗传物质在数量、结构和功能上发生改变所引起的疾病。遗传病通常具有垂直传递的特征。
大多数遗传病是先天性疾病,并且往往表现有家族聚集现象,为家族性疾病,但必须明确遗传性疾病不等于先天性疾病。遗传性疾病也不等于家族性疾病。那么,什么是先天性疾病?什么是家族性疾病?遗传病与它们有何区别?
先天性疾病是指婴儿出生时已发生的发育异常或疾病,不论其是否具有遗传物质的改变。例如,多指、并指、脊柱裂、唇裂、腭裂、白化病、血友病、先天愚型等,是由于遗传物质(基因或染色体)发生改变而引起,这类先天性疾病称为遗传病,但有些先天性疾病并不是由于遗传物质改变而造成的,例如,母亲在妊娠早期(怀孕前3个月内)感染风疹病毒,可使胎儿产生先天性心脏病或先天性白内障;又如孕妇服用“反应停”造成新生儿“海豹”畸形,即短肢或缺肢畸形,这些虽然都是先天性疾病,但并非遗传性疾病,此外,不少遗传病在出生时并无症状,而是发育到一定年龄时才发病,如假性肥大型肌营养不良症,通常在儿童期发病;遗传性舞蹈病(Huntington舞蹈病)通常发病于25~45岁。
Introduction

医学遗传学是医学科学领域中研究十分活跃的前沿学科,它已成为2l世纪带动医学科学发展的学科之一。医学遗传学是医学院校学生的一门重要的医学基础课程,为了帮助同学们学好这门课程,2003年我们组织有关医学院校的一线骨干教师编写了《医学遗传学学习与解题指南》(第1版)。随着医学遗传学教学改革的不断深入和全英语教学在各医学院校的普遍开展,我们觉得有必要对《医学遗传学学习与解题指南》(第l版)进行更新和补充。以适应新形势下不同层次医学生的学习需要。
《医学遗传学学习与解题指南》(第2版)是按照教学大纲的要求,总结丁教师们多年的教学经验和体会,在第l版的基础上作了部分修改和补充。本书共有以下三部分内容。
第一部分为与教材相对应的17章,主要包括3部分内容。①学习要点:概括、总结该章的重点内容。为方便英语班的同学学习,第2版增加了summary和keyconcepts。②习题精选:有名词解释、填空题、选择题、计算题、简答题和问答题。其中选择题分A、B、X等3种题型,A型题为单项选择题;B型题为配伍题,即数道习题共用l组备选答案,先提供4-5个备选答案,然后提出几个问题,选择1个最佳答案,每个备选答案可用1次或多次,也可1次不用;X型题为多项选择题。③参考答案。
第二部分为医学遗传学英文综合试题。
第三部分内容为医学遗传学实验指导。
本书适用于医学院校七(八)年制学生、本(专)科学生学习医学遗传学;对于参加研究生入学考试、在职人员晋升考试和自学考试的读者,也不失为一本有指导价值的参考书;对于从事遗传学教学的教师亦有一定的参考价值。

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