Campbell I G, Foulkes W D, Beynon G, Davis M, Englefield P
Department of Obstetrics and Gynaecology, University of Southampton, Princess Anne Hospital, UK.
Int J Cancer. 1995 Oct 9;63(2):222-5. doi: 10.1002/ijc.2910630213.
The CDKN2 gene encodes a cell cycle regulatory protein and is located on chromosome 9p21, a region deleted in a wide variety of primary tumours. While mutations in the CDKN2 gene itself are frequently observed in tumour cell lines, they are less common in primary tumours. We have investigated the role of the CDKN2 gene in ovarian cancer by analysis for allelic loss of 9p21 and single-strand conformational polymorphism analysis of exons 1 and 2 of CDKN2 in 67 primary ovarian tumours. Loss of heterozygosity on 9p21 was frequently observed (24/50 informative tumours) and was common in early-stage tumours, suggesting that it is an early event in ovarian tumorigenesis. Homozygous deletion of the CDKN2 gene was detected in only 1 tumour. No somatic or germline mutations were observed in CDKN2, though a codon 140 polymorphism was detected in 2 cases. This suggests that CDKN2 is not involved in ovarian tumorigenesis and that another gene(s) may be the target of the frequent 9p allelic losses observed.
CDKN2基因编码一种细胞周期调节蛋白，位于9号染色体p21区域，该区域在多种原发性肿瘤中缺失。虽然在肿瘤细胞系中经常观察到CDKN2基因本身的突变，但在原发性肿瘤中则较少见。我们通过分析67例原发性卵巢肿瘤中9号染色体p21的等位基因缺失以及CDKN2基因外显子1和2的单链构象多态性，研究了CDKN2基因在卵巢癌中的作用。9号染色体p21杂合性缺失经常被观察到（50例信息充分的肿瘤中有24例），并且在早期肿瘤中很常见，这表明它是卵巢肿瘤发生过程中的早期事件。仅在1例肿瘤中检测到CDKN2基因的纯合缺失。未观察到CDKN2基因的体细胞或种系突变，不过在2例中检测到密码子140多态性。这表明CDKN2不参与卵巢肿瘤发生，并且可能存在其他基因是观察到的9号染色体等位基因频繁缺失的靶点。
