Abstract
Xeroderma pigmentosum (XP), trichothiodystrophy (TTD), and Cockayne syndrome (CS) are human genetic diseases associated with defects in nucleotide excision repair (NER). Each disease is subdivided into multiple complementation groups. Identification of the genetic group to which a patient belongs is relevant for both clinical and basic research aims: (1) to study relationships between genotype and phenotype, in order to understand the different clinical symptoms and, eventually, to envisage clinical trials (gene therapy); and (2) to elucidate DNA repair mechanisms in mammalian cells (1). Since the first characterization of a DNA repair defect in XP cells, measured by the uptake of 3H-thymidine during unscheduled DNA synthesis (UDS), assignment of a patient to a complementation group has been achieved by using the somatic cell fusion procedure followed by analysis of UDS or recovery of RNA synthesis (RRS) after ultraviolet (UV) irradiation (2,3).
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Zeng, L., Sarasin, A., Mezzina, M. (1999). Novel Complementation Assays for DNA Repair-Deficient Cells. In: Henderson, D.S. (eds) DNA Repair Protocols. Methods in Molecular Biology™, vol 113. Humana Press. https://doi.org/10.1385/1-59259-675-4:87
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DOI: https://doi.org/10.1385/1-59259-675-4:87
Publisher Name: Humana Press
Print ISBN: 978-0-89603-802-8
Online ISBN: 978-1-59259-675-1
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