◼ 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

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

一、血红蛋白概述 二、血红蛋白基因 三、Hb的发育演变与遗传控制 四、α、β珠蛋白基因结构及表达 五、Hb病的类型和分子基础

染色体畸变（chromosome aberration）是体细胞或生殖细胞内染 色体发生的异常改变。畸变的类型和可能引起的后果在细胞不同周期 和个体发育不同阶段不尽相同。 染色体畸变可分为数目畸变和结构畸变两大类，其中染色体的数 目畸变又可分为整倍性改变和非整倍性改变两种。结构畸变主要有缺 失、重复、插入、易位和倒位等；

突变的基因通过改变多肽链的质和量，使得蛋白质发生缺陷，由 此引起遗传病。如果疾病的发生由一对等位基因控制，即为单基因遗 传病。根据缺陷蛋白对机体所产生的影响不同，通常把这类疾病分为 分子病和先天性代谢缺陷两类

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

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

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