Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair
Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair
复制标题
使用计划外 DNA 合成和复制后修复检测对着色性干皮病（C 组）进行产前诊断
DOI：
10.1111/j.1399-0004.1979.tb00982.x
复制
发表时间：
1979
影响因子：
3.5
通讯作者：
D. Bootsma
中科院分区：
文献类型：
--
作者：
D. Halley;W. Keijzer;N. Jaspers;M. F. Niermeuer;W. J. Rleijer;J. Boué;A. Boué;D. Bootsma
The analysis of DNA repair processes is described in two pregnancies at risk for xeroderma pigmentosum. In both cases, excision repair (measured by unscheduled DNA synthesis) and postreplication repair were analyzed. An affected and an unaffected fetus were identified within 3 weeks after amniocentesis. The cells from the affected fetus were found to be deficient in excision DNA repair, whereas the PRR patterns were intermediate between those of normal and PRR deficient cells. This indicates the possibility of prenatal diagnosis of PRR deficient XP patients (XP variants).
