1.Genes can be mutated in many ways The most common gene change involves a single base mismatch--a misspelling--placing the wrong base in the DNA. At other times, a single base may be dropped or added. And sometimes large pieces of DNA are mistakenly repeated or deleted

The most common gene change involves a single base mismatch--a misspelling--placing the wrong base in the DNA. At other times, a single base may be dropped or added. And sometimes large pieces of DNA are mistakenly repeated or deleted

Medical Genetics Genetic diseases and congenital malformations occur in approximately 2 to 5 of all live births, account for up to 30% of paediatric admissions to hospital, and are an important cause of death under the age of 15 years

一、前言 二、系谱与系谱分析法 三、常染色体显性遗传病的遗传 四、常染色体隐性遗传病的遗传 五、X连锁显性遗传病的遗传 六、X连锁隐性遗传病的遗传Y连锁遗传病的遗传 七、影响单基因遗传病分析的因素

single-gene disorder or monogenic disorder Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore it's also called mendelian diseases

一、基因诊断概述 (一) 基因诊断的概念与特点 (二) 基因诊断的基本原理与临床意义 二、基因诊断的常用技术与方法 (一) 基因诊断的常用技术 (二) 基因诊断的基本方法 DNA芯片技术 DNA chips or microarray

◼ 前言 ◼ 系谱与系谱分析法 ◼ 常染色体显性遗传病的遗传 ◼ 常染色体隐性遗传病的遗传 ◼ X连锁显性遗传病的遗传 ◼ X连锁隐性遗传病的遗传Y连锁遗传病的遗传 ◼ 影响单基因遗传病分析的因素

The Science of Genetics Cellular Reproduction Mendelism: The Basic Principles of Inheritance CHAPTER 4 Extensions of Mendelism The Chromosomal Basis of Mendelism Variation in Chromosome Number and Structure Linkage, Crossing Over, and Chromosome Mapping in Eukaryotes The Genetics of Bacteria and Their Viruses DNA and the Molecular Structure of Chromosomes Replication of DNA and Chromosomes Translation and the Genetic Code Mutation, DNA Repair, and Recombination The Techniques of Molecular Genetics Genomics Applications of Molecular Genetics Transposable Genetic Elements Regulation of Gene Expression in Prokaryotes Regulation of Gene Expression in Eukaryotes The Genetic Control of Animal Development The Genetic Basis of Cancer Inheritance of Complex Traits Population Genetics Evolutionary Genetics Transcription and RNA Processing

一、前言 二、染色体畸变发生的原因 三、染色体数目异常及其产生的机制 四、染色体结构畸形及其产生的机制

一、单基因病的概念 二、系谱常用符号及系谱分析 三、各种单基因病的系谱特征 四、AD的各种类型 五、影响单基因病发病风险的因素 六、单基因病发病风险的估计