Foulkes W D, Ragoussis J, Stamp G W, Allan G J, Trowsdale J
Imperial Cancer Research Fund, Lincoln's Inn Fields, London, UK.
Br J Cancer. 1993 Mar;67(3):551-9. doi: 10.1038/bjc.1993.101.
Investigation of genetic changes in tumours by loss of heterozygosity (LOH) is a powerful technique for identifying chromosomal regions that may contain tumour suppressor genes. LOH has been described on chromosome 6 in ovarian carcinoma using restriction fragment length polymorphism analysis with a small number of probes. We studied 29 ovarian carcinomas with 19 probes mapping to chromosome 6. Sixteen of the 29 tumours showed LOH on 6q (55%). Of these 16, 63% showed loss of all informative markers on that arm. One tumour showed loss of 6q24-qter, localising the putative tumour suppressor gene to that region. Loss on 6p was 28% overall. However, using three dinucleotide repeat primer pairs from 6p to study LOH in seven selected tumours, LOH was demonstrated at both 6p22.3-pter and at 6p12-6p22. These results confirm that 6q harbours a tumour suppressor gene of relevance to ovarian carcinoma and suggest that there may also be a similar gene(s) on 6p. By Southern analysis, there was no evidence of genomic rearrangements of the oestrogen receptor gene, located at 6q25.1. LOH on 6q was more common in high than low grade tumours. The relevance of our findings to previous work in ovarian cancer and other solid tumours is discussed.
通过杂合性缺失(LOH)研究肿瘤中的基因变化是一种强大的技术,可用于识别可能包含肿瘤抑制基因的染色体区域。使用少量探针进行限制性片段长度多态性分析,已在卵巢癌的6号染色体上描述了杂合性缺失。我们用19个定位于6号染色体的探针研究了29例卵巢癌。29个肿瘤中有16个(55%)在6q上显示杂合性缺失。在这16个肿瘤中,63%在该臂上显示所有信息性标记缺失。一个肿瘤显示6q24 - qter缺失,将假定的肿瘤抑制基因定位到该区域。6p上的缺失总体为28%。然而,使用来自6p的三个二核苷酸重复引物对研究七个选定肿瘤中的杂合性缺失,在6p22.3 - pter和6p12 - 6p22均显示有杂合性缺失。这些结果证实6q含有与卵巢癌相关的肿瘤抑制基因,并提示6p上可能也存在类似的基因。通过Southern分析,位于6q25.1的雌激素受体基因没有基因组重排的证据。6q上的杂合性缺失在高级别肿瘤中比低级别肿瘤中更常见。本文讨论了我们的研究结果与先前卵巢癌及其他实体瘤研究工作之间的相关性。