论文部分内容阅读
近年来,遗传病的诊断与防治有了很大进展,现将有关原则问题作一介绍。遗传病的诊断一、记录家族史(家系调查)遗传病的诊断,首先应从其家族史着手。第一步要取得有关先证者或称索引患者(即临床上受累而使家族受注意的人)及其一级亲属(即先证者的父母、同胞和子女)的准确家族史,包括姓名、出生日期、死亡年龄、死因及所患疾病或缺陷的名称或描述。第二步是调查家族中的疾病或缺陷:1、亲属中是否有
In recent years, there has been great progress in the diagnosis and prevention of genetic diseases, and an introduction is now made on the issues of principle. The diagnosis of genetic disease First, record the family history (pedigree) Genetic disease diagnosis, first of all should proceed from its family history. The first step is to obtain an accurate family history of the proband or index patient (ie, the person who is clinically affected and who notice the family) and their first-degree relatives (parents, siblings and children of the proband), including their names , Date of birth, age of death, cause of death, and name or description of the disease or defect in question. The second step is to investigate the family of diseases or defects: 1, whether the relatives