Linnenbach A J, Pressler L B, Seng B A, Kimmel B S, Tomaszewski J E, Malkowicz S B
Wistar Institute of Anatomy and Biology, Philadelphia, PA 19104.
Hum Mol Genet. 1993 Sep;2(9):1407-11. doi: 10.1093/hmg/2.9.1407.
A panel of 18 superficial or invasive transitional cell carcinomas (TCCs) was analyzed for chromosome 9 deletions by performing a high-density loss of heterozygosity (LOH) analysis. Twenty-five microsatellite loci were assayed by the polymerase chain reaction (PCR) and 7 restriction fragment length polymorphism (RFLP) loci were analyzed by Southern blotting. Concordant results were obtained with these methods, including direct comparisons at 2 loci. Chromosome 9 LOH was observed in 13 (72%) of 18 informative cases, including 10 superficial lesions. In contrast, LOH on chromosomes 10, 15, 20 and 21 was < or = 8%. Evidence for missing copies of chromosome 9 was observed in 7 of 13 LOH cases. Comparison of cases with subchromosomal LOH implicated the region between the D9S55 locus on 9p12 and the argininosuccinate synthetase (ASS) locus on 9q34.1 as the location of a tumor suppressor gene relevant to TCC.
通过进行高密度杂合性缺失(LOH)分析,对一组18例浅表性或浸润性移行细胞癌(TCC)进行了9号染色体缺失分析。通过聚合酶链反应(PCR)检测了25个微卫星位点,并通过Southern印迹分析了7个限制性片段长度多态性(RFLP)位点。这些方法得到了一致的结果,包括在2个位点的直接比较。在18例信息充足的病例中,有13例(72%)观察到9号染色体LOH,其中包括10例浅表性病变。相比之下,10号、15号、20号和21号染色体上的LOH小于或等于8%。在13例LOH病例中的7例中观察到9号染色体缺失拷贝的证据。对亚染色体LOH病例的比较表明,9p12上的D9S55位点与9q34.1上的精氨琥珀酸合成酶(ASS)位点之间的区域是与TCC相关的肿瘤抑制基因的位置。