Molecular analysis of glioma and skin-tumour alterations in a xeroderma-pigmentosum child.
作者： Giuseppina Giglia , Eric Bouffet , Anne Jouvet , Hiroko Ohgaki , Paul Kleihues
DOI: 10.1002/(SICI)1097-0215(19990505)81:3<345::AID-IJC6>3.0.CO;2-E
关键词:
摘要: Xeroderma pigmentosum (XP) is a rare hereditary disease characterized by very high frequency of skin tumours due to defect in the nucleotide-excision-repair process. Some these patients have also been reported develop internal with higher than normal population. Reported here are clinical features and molecular analysis an XP patient who developed multiple cancers as well thalamic glioma. Complementation recombinant retrovirus, cloning efficiency unscheduled DNA synthesis after UV-C indicate that belongs C group. Characterization p53 mutations 2 leads speculation on aetiological agents involved tumour initiation. The clearly induced presence unrepaired UVB-induced damage non-transcribed strand gene, while glioma may be lesions produced free radicals.
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