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人交界性和浸润性上皮性卵巢肿瘤中9号染色体短臂及p16基因改变的详细缺失图谱分析

Detailed deletion mapping of chromosome 9p and p16 gene alterations in human borderline and invasive epithelial ovarian tumors.

作者信息

Rodabaugh K J, Biggs R B, Qureshi J A, Barrett A J, Welch W R, Bell D A, Berkowitz R S, Mok S C

机构信息

Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, Massachusetts, USA.

出版信息

Oncogene. 1995 Oct 5;11(7):1249-54.

PMID:7478544
Abstract

We used PCR amplification of tandem repeats to study the pattern of allelic loss in borderline and invasive ovarian epithelial tumors using 12 primer pairs to generate a detailed deletion map of chromosome 9p. In the invasive ovarian carcinomas, there were three regions displaying high frequency of loss of heterozygosity (LOH) ranging from 31-38%. In contrast, LOH was a rare event among the borderline ovarian tumors, with one region revealing a rate of 20% and the remaining regions only 0-8% LOH. Therefore, allelic loss does not seem to be important for the development of borderline ovarian tumors. We also examined p16 gene expression and mutations in ovarian cancer cell lines and invasive and borderline ovarian tumor tissues. Southern blot analysis revealed no losses of the p16 gene in either the invasive or borderline ovarian tumors. However, the ovarian carcinoma cell lines showed a 50% homozygous deletion rate. SSCP analysis detected a mobility shift in only one (borderline) tumor. Since the primary invasive ovarian tumors did not show any deletions or mutations, it appears that p16 does not play a role in the pathogenesis of these tumors.

摘要

我们使用串联重复序列的聚合酶链反应(PCR)扩增技术,通过12对引物对9号染色体短臂生成详细的缺失图谱,来研究交界性和浸润性卵巢上皮性肿瘤的等位基因缺失模式。在浸润性卵巢癌中,有三个区域显示杂合性缺失(LOH)的高频出现,范围为31%-38%。相比之下,LOH在交界性卵巢肿瘤中是罕见事件,其中一个区域的发生率为20%,其余区域的LOH仅为0%-8%。因此,等位基因缺失似乎对交界性卵巢肿瘤的发生并不重要。我们还检测了卵巢癌细胞系以及浸润性和交界性卵巢肿瘤组织中的p16基因表达和突变情况。Southern印迹分析显示,浸润性或交界性卵巢肿瘤中均未出现p16基因缺失。然而,卵巢癌细胞系显示出50%的纯合缺失率。单链构象多态性(SSCP)分析仅在一个(交界性)肿瘤中检测到迁移率改变。由于原发性浸润性卵巢肿瘤未显示任何缺失或突变,似乎p16在这些肿瘤的发病机制中不起作用。

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