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218例人类肿瘤1号染色体异常的断点

Break points in chromosome #1 abnormalities of 218 human neoplasms.

作者信息

Brito-Babapulle V, Atkin N B

出版信息

Cancer Genet Cytogenet. 1981 Nov;4(3):215-25. doi: 10.1016/0165-4608(81)90015-7.

Abstract

A survey of 343 break points that lead to chromosome #1 abnormalities in 218 human neoplasms showed that 49.9% were located in or immediately adjacent to the centromeric heterochromatin. Amongst rearrangements with breaks in bands p 12-q21 were 27 isochromosomes, 22 translocations of the long arm, and four translocations of the short arm to the heterochromatic regions of other chromosomes, and 35 deletions resulting in chromosomes consisting mainly or solely of one arm. Deletions following breakage at various sites in the short arm of chromosome #1 are frequent in malignancies and are quite often found in cells that are trisomic for the long arm. It is suggested that fragility of chromosomes generated as a result of early events in carcinogenesis may be one source of chromosome rearrangements, including those of chromosome #1, on which selection can operate and give rise to progressively more malignant clones.

摘要

一项针对218例人类肿瘤中导致1号染色体异常的343个断点的调查显示,49.9%的断点位于着丝粒异染色质内或紧邻着丝粒异染色质。在p12 - q21带区发生断裂的重排中,有27条等臂染色体、22条长臂易位、4条短臂易位至其他染色体的异染色质区域,以及35条缺失导致染色体主要或仅由一条臂组成。1号染色体短臂不同位点断裂后的缺失在恶性肿瘤中很常见,并且经常在长臂三体的细胞中发现。有人提出,致癌早期事件导致的染色体脆弱性可能是染色体重排的一个来源,包括1号染色体的重排,在这些重排上选择作用可以发挥,并产生恶性程度逐渐增加的克隆。

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