两名着色性干皮病患者被归入互补组E。

Assignment of 2 patients with xeroderma pigmentosum to complementation group E.

作者信息

Fujiwara Y, Uehara Y, Ichihashi M, Yamamoto Y, Nishioka K

出版信息

Mutat Res. 1985 Jan-Mar;145(1-2):55-61. doi: 10.1016/0167-8817(85)90040-9.

Abstract

Xeroderma pigmentosum (XP) fibroblast strains derived from XP24KO and XP26KO patients with mild clinical manifestations were similarly twice as sensitive to 254 nm UV killing as normal cells and had a reduced level of 30-55% unscheduled DNA synthesis (UDS) after irradiation with 10 J/m2. Complementation analysis in the hybridized heterodikaryons revealed that XP24KO and XP26KO cells were only unable to complement the reference XP2RO group E cells, despite sufficient complementation to give rise to the normal level of UV-induced UDS with cells of all the other reference XP groups. Nor did XP24KO cells complement XP26KO cells. Therefore, the above 2 unrelated XP patients were assigned to complementation group E. The present group E assignment is the first in Japan, and perhaps the second in the world, the first being the XP2RO/XP3RO second-cousin relationship in The Netherlands (now 4 patients in group E).

摘要

从临床表现较轻的XP24KO和XP26KO患者身上获取的着色性干皮病（XP）成纤维细胞系，对254nm紫外线杀伤的敏感性同样是正常细胞的两倍，并且在接受10J/m²照射后，其非预定DNA合成（UDS）水平降低了30 - 55%。杂交异核体中的互补分析表明，XP24KO和XP26KO细胞仅无法与参考XP2RO E组细胞互补，尽管它们能与所有其他参考XP组的细胞充分互补，从而使紫外线诱导的UDS达到正常水平。XP24KO细胞也不能与XP26KO细胞互补。因此，上述两名无亲缘关系的XP患者被归为互补组E。本互补组E的归类在日本尚属首次，在世界范围内可能是第二例，第一例是荷兰的XP2RO/XP3RO二级亲属关系（目前E组有4名患者）。