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

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、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

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

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 2. Inborn errors of metabolism Inborn errors of metabolism are are genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components

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

1. What is gene therapy? 2. How does gene therapy work? 3. The current status of gene therapy research 4. Factors kept gene therapy effective 5. Some recent developments 6. Some of the ethical considerations

基因定位 gene location 连锁分析(linkage analysis) 体细胞杂交法（somatic cell hybridization） 克隆嵌板法（clone panel method） 原位杂交（in situ hybridization） 荧光原位杂交（florescence in-situ hybridization,FISH） 基因定位的应用 人类基因组计划

2. Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components