Mertens F, Johansson B, Heim S, Mandahl N, Rydholm A, Mitelman F
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Hum Genet. 1988 Aug;79(4):309-14. doi: 10.1007/BF00282167.
The localization of breakpoints in spontaneous chromosome aberrations, i.e., chromatid and chromosome gaps, breaks, and exchanges, has been studied in cultured skin fibroblasts from 34 untreated patients with musculoskeletal sarcoma and 38 controls. A total of 325 aberrations in the sarcoma group and 251 in the control group could be assigned to particular bands. The distribution was non-random (P less than 0.001) in both groups. Twenty-one bands in the sarcoma group and 20 in the control group appeared as hot spots, with 11 represented in both groups. Only three hot spots, all of which were present among both patients and controls, coincided with bands involved in primary sarcoma-associated chromosome rearrangements. The results indicate that the chromosome breakage pattern of non-malignant cells is similar in sarcoma patients and controls. Hence, the occurrence of primary structural rearrangements in sarcomas cannot be accounted for by any constitutional proneness to chromosome breakage at these bands.
对34例未经治疗的肌肉骨骼肉瘤患者和38例对照者的培养皮肤成纤维细胞中自发染色体畸变(即染色单体和染色体的裂隙、断裂及交换)断点的定位进行了研究。肉瘤组共有325个畸变,对照组有251个畸变可归属于特定的带。两组的分布均为非随机分布(P<0.001)。肉瘤组有21条带、对照组有20条带表现为热点,两组中有11条带相同。只有3个热点在患者和对照中均存在,且与原发性肉瘤相关的染色体重排所涉及的带一致。结果表明,肉瘤患者和对照者非恶性细胞的染色体断裂模式相似。因此,肉瘤中原发性结构重排的发生不能用这些带处任何先天性的染色体断裂倾向来解释。