Devlin J, Elder P A, Gabra H, Steel C M, Knowles M A
Molecular Genetics Laboratory, Marie Curie Institute, Oxted, Surrey, UK.
Br J Cancer. 1996 Feb;73(4):420-3. doi: 10.1038/bjc.1996.75.
We have screened 33 ovarian tumours of various grades and stages for the loss of heterozygosity (LOH) of markers on chromosome 9. LOH was detected in 26 cases (79%). Eleven tumours (33%) showed LOH of all informative markers. The remaining 15 cases had partial deletions. Of these, six (18%) had losses on 9p only, three (9%) had LOH confined to 9q and six (18%) had losses on both chromosome arms, four of which had a retention of hetereozygosity in between. There was no association between tumour grade stage or histopathology and any losses. High-density deletion mapping was carried out in 12 selected cases that had partial deletions of 9p and/or 9q. The deleted region on 9p included the cyclin-dependent kinase inhibitor 2 (CDKN2) locus and one tumour was found to have a homozygous deletion of CDKN2. LOH on 9q extended over a larger region. We found evidence for two regions of deletion on 9q, one at 9q34 and the other encompassing the nevoid basal cell carcinoma (Gorlin) syndrome locus on proximal 9q.
我们对33例不同分级和分期的卵巢肿瘤进行了9号染色体上标记杂合性缺失(LOH)的筛查。26例(79%)检测到LOH。11例肿瘤(33%)所有信息性标记均显示LOH。其余15例有部分缺失。其中,6例(18%)仅9p有缺失,3例(9%)LOH局限于9q,6例(18%)两条染色体臂均有缺失,其中4例在两者之间存在杂合性保留。肿瘤分级、分期或组织病理学与任何缺失之间均无关联。对12例选定的9p和/或9q有部分缺失的病例进行了高密度缺失图谱分析。9p上的缺失区域包括细胞周期蛋白依赖性激酶抑制剂2(CDKN2)基因座,发现1例肿瘤CDKN2存在纯合缺失。9q上的LOH延伸至更大区域。我们发现9q上有两个缺失区域的证据,一个在9q34,另一个包含9q近端的痣样基底细胞癌(Gorlin)综合征基因座。