一个遗传性智力迟缓家系的分析

Survey of the family with genetic mental retardation

目的寻找由DNA损伤引起的人类表型缺陷,为人类遗传资源的收集与保藏以及人类基因结构与功能的研究打下基础。方法通过实地调查得到表型缺陷家系,然后进行系谱分析。结果得到一个遗传性智力迟缓家系,3代11位成员中有2例患者。结论遗传性智力迟缓是由DNA损伤引起的人类表型缺陷;该病症符合X-连锁隐性遗传。

Objective ： Looking for the human phenotype blemish caused by injured DNA, collecting and storing the human genetic resources are necessary in order to study the structure and function of the human genes, Methods ： The study was done by on - the - spot investigation and the pedigree analysis. Results： A family with genetic mental retardation was obtained, There were 2 cases in 3 generations in this family, Conclusion： The genetic mental retardation is the human phenotype blemish caused by injured DNA. It is compatible with the X -linked recessive inheritance.