Li S B, Schwartz P E, Lee W H, Yang-Feng T L
Department of Human Genetics, Yale University School of Medicine, New Haven 06510.
J Natl Cancer Inst. 1991 May 1;83(9):637-40. doi: 10.1093/jnci/83.9.637.
To gain a broad spectrum on allelic loss of specific loci in ovarian tumors, we initially examined DNA from 23 pairs of ovarian tumors and matched peripheral blood lymphocyte samples from the same patients, using 27 polymorphic DNA markers distributed on 13 chromosomes. Significant high frequency of allelic deletion (22%-44%) at chromosome 13 loci (D13S31, D13S32, D13S33, and D13S34) at bands q12-q34 was observed in tumor tissues. These results led us to investigate the loss of heterozygosity at the retinoblastoma (RB) locus in ovarian tumors, because the RB gene is a tumor-suppressor gene located at 13q14. Analysis of the variable number of tandem repeat sequence polymorphism in intron 20 in the RB gene revealed that 6 (30%) of 20 patients with informative samples showed allelic loss at the RB locus in their tumor tissues. This loss, of relatively high frequency, suggests that the RB gene, or a closely linked gene, seems to be involved in the development of ovarian cancer.
为了全面了解卵巢肿瘤中特定基因座的等位基因缺失情况，我们首先使用分布于13条染色体上的27个多态性DNA标记，检测了23对卵巢肿瘤及其配对的同一患者外周血淋巴细胞样本的DNA。在肿瘤组织中观察到，13号染色体q12 - q34区域的基因座（D13S31、D13S32、D13S33和D13S34）存在显著高频的等位基因缺失（22% - 44%）。这些结果促使我们研究卵巢肿瘤中视网膜母细胞瘤（RB）基因座的杂合性缺失情况，因为RB基因是位于13q14的肿瘤抑制基因。对RB基因第20内含子串联重复序列多态性可变数目的分析显示，在20例有信息样本的患者中，有6例（30%）的肿瘤组织在RB基因座出现了等位基因缺失。这种相对高频的缺失表明，RB基因或与之紧密连锁的基因似乎参与了卵巢癌的发生发展。
