PMID: 9008227Feb 1, 1997Paper

The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy

The Journal of Investigative Dermatology
C AlapetiteAlain Sarasin

Abstract

Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) are autosomal recessive diseases associated with extreme cutaneous photosensitivity, a defect in nucleotide excision repair (NER), and genetic complexity. Severe prognosis and lack of treatment led families at risk to request genetic counseling. Unscheduled DNA synthesis (UDS) is the classic method for diagnosis and requires 4 to 5 wk before conclusion. The use of the alkaline comet assay (single cell gel electrophoresis assay) is proposed as a simple repair test for earlier prenatal diagnosis. Amniotic or chorionic villus cells in two pregnancies at risk for XP and one for TTD were examined in comparison with skin fibroblasts of family members or with repair-proficient or -deficient control cells. The comet assay and the UDS test were performed in parallel. In repair-proficient cells, DNA strand breaks due to the incision of UV-induced DNA damage result in increased migration of high molecular weight DNA in the comet assay. Fetal cells demonstrate repair capacity similar to that of fibroblasts. In incision repair-deficient XP and TTD cells, after post-UV incubation, migration does not occur and comet moments are reduced. Two fetuses belonging to two XP families responded...Continue Reading

Citations

Dec 22, 1999·Acta Oncologica·P L OliveT Trotter
Apr 9, 2010·Plastic and Reconstructive Surgery·Cypel Tatiana K SRonald M Zuker
Mar 10, 2001·Laboratory Investigation; a Journal of Technical Methods and Pathology·C S DjuzenovaM Flentje
Sep 21, 2007·Prenatal Diagnosis·Wim J KleijerNicolaas G J Jaspers
Jun 26, 2002·Carcinogenesis·Alysson R MuotriCarlos F M Menck
Feb 14, 2009·Biological Trace Element Research·Alessandra de Santana Braga Barbosa RibeiroElisângela de Paula Silveira-Lacerda
May 16, 1998·Experimental Dermatology·J A McGrath, A H Handyside
Dec 28, 2007·Radiation Research·Andrzej R TrzeciakMichele K Evans
Feb 5, 2021·International Journal of Dermatology·Mishri Lal Khatri
Feb 1, 2003·Survey of Ophthalmology·Hélène DollfusAlain Sarasin
May 19, 2010·Mutation Research·Ilse DecordierMicheline Kirsch-Volders

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