British journal of ophthalmology, 2010-03, Vol.94 (3), p.357-362
2010
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- Autor(en) / Beteiligte
- Titel
- Allelic imbalance at 13q31 is associated with reduced GPC6 in Chinese with sporadic retinoblastoma
- Ist Teil von
- British journal of ophthalmology, 2010-03, Vol.94 (3), p.357-362
- Ort / Verlag
- BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
- Erscheinungsjahr
- 2010
- Quelle
- BMJ Journals Archiv - DFG Nationallizenzen
- Beschreibungen/Notizen
- Background/aimsLoss of heterozygosity (LOH) has been discovered in retinoblastoma (RB) in previous studies. In this study, we aimed to discover potential tumour suppressor genes through investigation of the incidence of allelic loss in chromosome 1, 6, 9, 13, 19, 20, 21, 22 and X in Chinese sporadic retinoblastoma patients and to study the expression of genes flanking LOH region 13q31.MethodsTwenty-five microdissected RB samples were analysed to investigate the LOH in 140 microsatellite markers. Expression of genes flanking D13S265 was investigated by real-time quantitative-PCR on available frozen samples. The promoter and entire coding region of GPC6 were examined for sequence changes in an extended batch of 29 RB samples.ResultsAllele losses were found in 92% (23/25) of the tumours. We identified a new LOH locus at 13q31 (D13S265) with a high occurrence rate (67%, 14/21) apart from the RB1 locus (68%, 17/25). Expression study detected the reduced expression of Glypican 6 (GPC6) transcript significantly associated with the LOH at 13q31 (p=0.024). Furthermore, mutation screening revealed no remarkable sequence alteration in GPC6 that could affect its expression.ConclusionResults suggest that a reduction in GPC6 mRNA in retinoblastoma is associated with the non-random allelic loss at 13q31 that could contribute to RB development.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0007-1161eISSN: 1468-2079DOI: 10.1136/bjo.2009.158832Titel-ID: cdi_proquest_miscellaneous_733553250
- Format
- –
- Schlagworte
- 13q31, Biological and medical sciences, Cancer, Child, Preschool, Chromosome Mapping, Chromosomes, Chromosomes, Human, Pair 13 - genetics, Data analysis, Deoxyribonucleic acid, DNA, DNA Mutational Analysis - methods, experimental and laboratory, Gene Expression, Genetic testing, genetics, Glypicans - biosynthesis, Glypicans - genetics, Heparan sulfate, Humans, Infant, LOH, Loss of Heterozygosity, Medical prognosis, Medical sciences, Microdissection - methods, Microsatellite Repeats, Miscellaneous, neoplasia, Neoplasm Proteins - metabolism, Ophthalmology, Prognosis, RB1, Retinal Neoplasms - genetics, Retinal Neoplasms - metabolism, Retinal Neoplasms - pathology, Retinoblastoma, Retinoblastoma - genetics, Retinoblastoma - metabolism, Retinoblastoma - pathology, Retinopathies, RNA, Messenger - genetics, RNA, Neoplasm - genetics, Studies, Tumor Cells, Cultured, Tumorigenesis, Tumors, Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus