Horsthemke B, Greger V, Becher R, Passarge E
Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.
Cancer Genet Cytogenet. 1989 Jan;37(1):95-102. doi: 10.1016/0165-4608(89)90079-4.
Isochromosome (6p) represents a highly characteristic cytogenetic abnormality of human retinoblastoma (RB) cells and may be important for tumor progression. To elucidate the mechanism by which this abnormal chromosome is formed, 24 RB tumors and three cell lines were studied by means of DNA polymorphisms specific for the short arm and the long arm of chromosome 6. Our results indicate that mitotic nondisjunction leading to trisomy 6 precedes the isochromosome formation. The isochromosome may then be formed by transverse division of the centromere or intrachromosomal chromatid exchange.
等臂染色体(6p)是人类视网膜母细胞瘤(RB)细胞高度特征性的细胞遗传学异常,可能对肿瘤进展具有重要意义。为阐明这种异常染色体形成的机制,我们借助针对6号染色体短臂和长臂的DNA多态性,对24例RB肿瘤和3个细胞系进行了研究。我们的结果表明,导致6号染色体三体性的有丝分裂不分离发生在等臂染色体形成之前。然后,等臂染色体可能通过着丝粒的横向分裂或染色体内染色单体交换而形成。