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C. Pang, K.W. Choy, T.C. Lee, K.F. Cheung, D.S. P. Fan, K.L. Beaverson, D.S. C. Lam, D.H. Abramson; An Investigation on Loss of Heterozygosity in Retinoblastoma . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3552.
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Purpose: We determined the loss of heterozygosity (LOH) in retinoblastoma through analysis of 140 microsatellite markers in the partial human genome. Methods: Twenty–five retinoblastoma tumor specimens were prepared by laser capture microdissection to obtain separated samples of normal retina tissues cells and cancerous cells. LOH was analyzed by PCR amplification of microsatellite DNA using fluorescence–labeled primers from the ABI Prism Linkage Mapping Set–MD–10. The markers were selected from the Généthon linkage map on the basis of chromosomal location and heterozygosity. Results: LOH was found at polymorphic loci on 92% of the samples. Frequent allelic imbalance was detected in chromosomes 1, 6, 13, 19, and 20. Fractional allelic loss was found not to be related to clinical prognosis, but LOH at D22S539 (p<0.005) and D6S470 (p<0.02) were significantly associated with high level of chromosomal loci loss. Conclusions: Our results suggest the presence of sites on chromosomes other than 13 may be linked to the development of retinoblastoma. Certain chromosome loci appear to be affected preferentially.
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