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由于缺失、有丝分裂重组或染色体丢失而产生的13q14区纯合性或半合性常被看作是视网膜母细胞瘤(RB)中的主要改变。本研究结果同下列假说相一致:肿瘤形成要求位于13q14.11区域上的两个等位基因同时失活。Benedict等人通过一例双侧RB的研究为此假说提供了早期的证据。通过测定位于13q14.11区域的酯酶D含量的提示,该病人体细胞中一条13号染色体的RB和酯酶D位点含有亚显微的缺失;而且在其肿瘤细
Homozygosity or hemizygosity in the 13q14 region due to deletions, mitotic recombination or chromosomal loss is often seen as a major change in retinoblastoma (RB). The results of this study are consistent with the hypothesis that tumor formation requires the simultaneous inactivation of two alleles located on the 13q14.11 region. Benedict et al. provided early evidence for this hypothesis through a case study of bilateral RB. By measuring the esterase D content in the 13q14.11 region, the RB and esterase D sites on chromosome 13 of this patient’s somatic cell contain sub-microscopic deletions;