Medical Genetics Gene Mutation Change in genes caused by change in structure of the dna

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

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

前面所介绍的遗传性状都是由细胞核内染色体 上的基因即核基因所决定的,由核基因所决定的遗 传现象和遗传规律称为细胞核遗传或核遗传。 生物的某些遗传现象并不是或者不完全是由核基因 所决定的,而是取决于或部分取决于细胞质内的基因

细菌和蓝绿藻属于原核生物: 一个线条状或环状染色体(单倍体结构); 无典型的有丝分裂和减数分裂; 染色体传递和重组方式与真核生物不同

一、前言 二、红细胞抗原遗传与新生儿溶血症

Medical Genetics Birth defects are defined as abnormalities of structure, function or body metabolism that are present at birth

一、前言 二、遗传病的常规诊断 三、分子诊断

一、前言 二、遗传病治疗的原则 三、传统的遗传病的治疗方法 四、基因治疗

一、前言 二、遗传咨询的临床基础 三、遗传病的再发风险率的估计 四、遗传病的群体筛查 五、遗传与优生