摘要
对６个着色性干皮病（ｘｅｒｏｄｅｒｍａｐｉｇｍｅｎｔｏｓｕｍ，ＸＰ）家系中１３例患者进行了临床遗传学研究。结合复习国内有关ＸＰ病的文献资料，共计对国内１１８个ＸＰ家系中２０３例患者的临床遗传学资料进行了分析，分别对我国ＸＰ的发病概况、临床遗传学特征及分型、ＤＮＡ修复能力及互补群分析等进行了讨论，提出我国ＸＰ基因频率和发病率。
The authors studied the clinicogenetic characters of 13 patients from 6 families with xeroderma pigmentosum(XP)and made a literature review covering 203 cases from 118 families with XP in China from 1955-1993.The incidence of XP,its clinicogenetic character,typing,DNA repair capacity and complementation group were analysed.The XP gene frequency was calculated at 0.002 for the population in China and incidence at O.000004(1:250000).
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1995年第3期138-141,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
干皮病
着色性干皮病
遗传学
基因频率
Xeroderma pigmentosum,Clinicogenetics,Complementation group,Gene frequency
