摘要
目的寻找由DNA损伤(如突变)引起的人类表型缺陷,为收集与保藏人类遗传资源,探明人类基因结构与功能奠定基础。方法通过实地调查得到表型缺陷家系,然后进行系谱分析。结果得到一先天性小瞳孔白内障家系,5代23位成员中有8例患者。结论先天性小瞳孔白内障是由DNA损伤引起的人类表型缺陷,该病症符合常染色体显性遗传。
Objective： Looking for the human phcnotypc blemish causcd 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 congenital microconia - cataract was obtained. There were 8 cases in 5 generations in this family. Conclusion ：The congenital microconia- cataract is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance.
出处
《中国优生与遗传杂志》
2006年第3期102-103,共2页
Chinese Journal of Birth Health & Heredity
关键词
常染色体显性遗传
先天性小瞳孔白内障
家系
Autosomal dominant inheritance
Congenital microconia - cataract
Family
