Tavassoli M, Steingrimsdottir H, Pierce E, Jiang X, Alagoz M, Farzaneh F, Campbell I G
Rayne Institute, King's College School of Medicine and Dentistry, London, UK.
Br J Cancer. 1996 Jul;74(1):115-9. doi: 10.1038/bjc.1996.324.
Forty-nine ovarian tumours were examined for loss of heterozygosity (LOH) on chromosome 5 using eight microsatellite markers spanning both arms, including one at the APC locus. LOH on 5q was a frequent event, detectable in 23 of 49 (47%) tumours, whereas 5p LOH was detected in only 1 of 22 tumours (5%). Six tumours showed partial LOH on 5q, enabling the candidate region to be localised to a 22 cM region proximal to APC, flanked by D5S424 and D5S644. An association was found between 5q LOH and TP53 mutation, with 18 of 23 (78%) tumours with LOH on 5q also harbouring a TP53 mutation. LOH on 5q was observed in 6 of 18 (33%) stage I tumours, suggesting that it may be an early event in the molecular pathogenesis of certain ovarian carcinomas.
使用跨越染色体5号双臂的8个微卫星标记,包括位于腺瘤性息肉病(APC)基因座的一个标记,对49个卵巢肿瘤进行杂合性缺失(LOH)检测。5号染色体长臂(5q)上的LOH是常见事件,在49个肿瘤中的23个(47%)中可检测到,而5号染色体短臂(5p)上的LOH仅在22个肿瘤中的1个(5%)中检测到。6个肿瘤在5q上显示部分LOH,使得候选区域定位于APC近端的一个22厘摩区域,两侧分别为D5S424和D5S644。发现5q LOH与TP53突变之间存在关联,5q上有LOH的23个肿瘤中的18个(78%)也存在TP53突变。在18个I期肿瘤中的6个(33%)中观察到5q LOH,提示其可能是某些卵巢癌分子发病机制中的早期事件。