散发性视网膜母细胞瘤中13号染色体长臂缺失和6号染色体短臂重复的亲本来源一致性

Naumova A, Hansen M, Strong L, Jones P A, Hadjistilianou D, Mastrangelo D, Griegel S, Rajewsky M F, Shields J, Donoso L

Department of Medicine, University of California at San Diego, La Jolla.

Am J Hum Genet. 1994 Feb;54(2):274-81.

Two hypotheses are capable of explaining nonrandom loss of one parent's alleles at tumor suppressor loci in sporadic cases of several pediatric cancers, including retinoblastoma--namely, preferential germ-line mutation or chromosome imprinting. We have examined 74 cases of sporadic retinoblastoma for tumors in which at least two genetic events--loss of heterozygosity for chromosome 13q markers and formation of an isochromosome 6p--have occurred. Sixteen cases were found to contain both events. In 13 of 16 such tumors, the chromosomes 13q that were lost and chromosomes 6p that were duplicated are derived from the same parent. These data may be explained within the framework of the genome imprinting model but are not predicted by preferential germ-line mutation.

有两种假说能够解释在包括视网膜母细胞瘤在内的几种儿童癌症的散发病例中，肿瘤抑制基因座上一个亲本等位基因的非随机丢失，即优先种系突变或染色体印记。我们检查了74例散发性视网膜母细胞瘤病例，这些肿瘤至少发生了两种遗传事件，即13号染色体长臂标记杂合性丢失和6号染色体短臂等臂染色体形成。发现16例病例同时存在这两种事件。在16个这样的肿瘤中的13个中，丢失的13号染色体长臂和复制的6号染色体短臂来自同一亲本。这些数据可以在基因组印记模型的框架内得到解释，但优先种系突变无法预测这些数据。