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

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

Medical Genetics The normal 46 chromosomes in our body are contained in the center of the cell, which is called the nucleus. Mitochondria are structures in the cell located outside of the nucleus in the cytoplasm, that also contain genes that are separate from the ones in the nucleus

一切生物细胞内的基因都能保持其相对稳定性，但在一定内外因 素的影响下，遗传物质就可能发生变化，这种遗传物质的变化及其所 引起的表型改变称为突变（mutation）。广义的突变包括染色体畸变 （chromosome aberration）和基因突变（gene mutation）。前者将在以 后章节中介绍，本章着重讨论基因突变

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、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