This study was conducted with two objectives. The first was to estimate the frequency of loss of heterozygosity (LOH) of the RB1 gene as a mechanism in disease causation in tumors of patients from India. The second objective was to employ RB1 molecular deletion and microsatellite-based linkage analysis as laboratory tools, while counseling families with a history of retinoblastoma (RB).DNA was extracted from peripheral blood and tumors of 54 RB patients and their relatives. Eight fluorescent microsatellite markers, both intragenic and flanking the RB1 gene, were used. After PCR amplification, samples were run on an ABI PRISM 310 genetic analyzer for LOH, deletion detection, and haplotype generation.LOH was found in conjunction with tumor formation in 72.9

作者：Vedam L, Ramprasad；Jagadeesan, Madhavan；Sakthivel, Murugan；Jagadeesh, Sujatha；Seshadri, Suresh；Tarun, Sharma；Govindasamy, Kumaramanickavel

来源：Molecular diagnosis & therapy 2007 年 11卷 1期