导语
内容提要
本教材根据医学专业来华留学生教学大纲的要求,阐述医学遗传学学科的发展史和基础理论、基本方法,详述遗传病的分类,包括单基因遗传病、线粒体遗传病、多基因遗传病、染色体病等相关知识,以及分子病和先天性代谢病等生化遗传学内容、遗传病的诊断和治疗相关内容等。本教材在每章提示重点学习内容,章后提供小结及配套名词解释、填空题、判断题、选择题等复习题及相关答案,便于学生自学。
本教材含本门课程的实验指导部分,包括人类染色体的制备、人类G显带核型分析、唐氏综合征的核型分析、系谱分析及人类皮纹分析等内容。
本教材供医学专业来华留学生及本科生双语教学使用。
目录
Chapter 1 Introduction
1.1 Genetics
1.2 Genetic Diseases
Summary
Exercises
Chapter 2 Mendel's Laws of Inheritance
2.1 Gregor Mendel (1822-1884)
2.2 Mendel's Experiments on Pea Plants
2.3 Relative Knowledge About Mendel's Experiments
2.4 Mendel's Laws
Summary
Exercises
Chapter 3 The Bases of Genetics
3.1 Molecular Structure of a Gene
3.2 DNA Sequences
3.3 Regulation of Gene Expression
3.4 Genetic Imprinting
3.5 Mutation
3.6 Somatic and Germline Mutation
3.7 “Loss of Function Mutation” and “Gain of Function Mutation
3.8 Molecular Basis of Gene Mutation (Point Mutation)
3.9 Mutagens
Summary
Exercises
Chapter 4 Inheritance Pattern of Single Gene Disorders (Monogenic Inheritance)
4.1 Monogenic Inheritance (Mendelian)
4.2 Pedigree Chart
4.3 Autosomal Dominant Inheritance (AD)
4.4 Case Study
4.5 Comment
4.6 Autosomal Recessive Inheritance (AR)
4.7 Sex-linked Inheritance
Summary
Exercises
Chapter 5 Mitochondrial Disorders
5.1 Unusual Forms of Inheritance-Matrilineal Inheritance
5.2 mtDNA
5.3 Mutation of Mitochondrial Gene
5.4 mtDNA Disorders
Summary
Exercises
Chapter 6 Polygenic or Multifactorial Inheritance
6.1 Polygenic Inheritance of Quantitative Traits
6.2 Characteristics of Polygenic Diseases
6.3 Polygenic Inheritance of Disease
6.4 Estimation of Recurrence Risks of Polygenic Diseases
Summary
Exercises
Chapter 7 Human Chromosomes
7.1 Human Chromosomes
7.2 Structure of Chromosomes
7.3 Classification of Chromosomes
7.4 Chromosome Analysis
7.5 X chromatin and Lyon Hypothesis
7.6 Telomere and Cancer
Summary
Exercises
Chapter 8 Chromosomal Disorders
8.1 Disorders of Chromosome Number
8.2 Further Details
8.3 Karyotype Symbols
8.4 Numerical Abnormalities of Autosomes
8.5 Numerical Abnormalities of Sex Chromosomes
Summary
Exercises
Chapter 9 Biochemical Genetics
Biochemical Genetics I
9.1 Molecular Diseases
9.2 The Molecular Structures of Hemoglobin
9.3 Globin Chain Structure
9.4 Types of Globins Gene Mutations
9.5 Common Hemoglobin Digeases
9.6 Thalassaemias
9.7 B-Thalassaemia
9.8 8B Thalassaemia
Summary
Biochemical Genetics IⅡ
9.9 Hereditary Enzymopathy/Inbom Errors of Metabolism(IEM)
9.10 Hereditary Enzymopathy
9.11 Some Common Inborn Errors of Metabolism
Summary
Exercises
Chapter 10 Diagnosis of Genetic Diseases
10.1 Symptomatic Diagnosis
10.2 Presymptomatic Diagnosis
10.3 Prenatal Diagnosis
10.4 Carrier Tests
10.5 Genetic Counseling in Disputed Paternity
10.6 Consanguineous Marriage and Genetic Counseling
10.7 Adoption and Genetic Counseling
Summary
Exercises
Chapter 11 Treatment of Genetic Diseases
11.1 Prenatal treatment
11.2 Postnatal Treatment
11.3 The First Gene Therapy
Summary
Exercises
Overall Review of Medical Genetics
Model Test
Model Test Paper of Medical Genetias of Xingjiang Medical University
Standard Answer
Some of the Standard Answers of “Overall Review of Medical Genetics”
Some of the Answers of the Model Test Paper of Medical Genetics of Xinjiang Medical University
Experimental Guidance of Medical Genetics
Section A Preparation of Human Chromosome Spreads
Section B Karyotype Analysis of Human G-banding Chromosomes
Section C Pedigree Analysis
Section D Analysis of Human Finger Print
Section E Karyotye Analysis of Down's syndrome
References