Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum

Authors:	Miria Stefanini Wilma Keijzer Leda Dalprà Raffaella Elli Marcella Nazzaro Porro B. Nicoletti Fiorella Nuzzo

Affiliation:	(1) Laboratorio di Genetica Biochimica ed Evoluzionistica del CNR, Via S. Epifanio 14, I-27100 Pavia, Italy;(2) Department of Cell Biology and Genetics, Erasmus University, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands;(3) Istituto di Biologia, Università di Milano, I-Milano, Italy;(4) Istituto di Biologia Generale I, Università di Roma, I-Roma, Italy;(5) Ospedale Dermatologico S.Gallicano, I-Roma, Italy

Abstract:	Summary UV-repair activity was studied in two sibs affected by XP showing different clinical symptoms. Complementation studies indicated that both patients fit into complementation group A. The levels of UV-induced ³H-thymidine incorporation, in fibroblasts and in lymphocytes, are different in the two patients: residual level of repair DNA synthesis in the sister is higher than in the brother. In one of the cell samples analyzed UDS analysis showed that in the sister a low proportion of cells with normal repair synthesis is present.

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