Muleris M, Salmon R J, Zafrani B, Girodet J, Dutrillaux B
Ann Genet. 1985;28(4):206-13.
Cytogenetic study of 11 cases of colorectal carcinoma was performed after R-banding. In all instances, there was a rearrangement involving chromosome 17 in its juxtacentromeric region, leading to the loss of its short arm. There was also a relative lack of chromosome 18, unrelated to a rearrangement of this chromosome in all but one case. Other anomalies, involving chromosomes 1 and 8 among others, were frequently but not systematically observed. The consistent lack of chromosome 18 and of the short arm of chromosome 17, leading to a complete or partial monosomy of these chromosomes in near diploid cells suggests that the passage to the hemizygous status of recessive genes carried by these chromosomes may play an important role in the development of colorectal carcinoma.
对11例结肠直肠癌病例进行了R显带后的细胞遗传学研究。在所有病例中,17号染色体着丝粒旁区域均发生重排,导致其短臂缺失。除1例病例外,其他病例中18号染色体相对缺失,且与该染色体的重排无关。还经常(但并非系统性地)观察到涉及1号和8号染色体等其他染色体的异常。18号染色体和17号染色体短臂的持续缺失,导致近二倍体细胞中这些染色体出现完全或部分单体性,这表明这些染色体携带的隐性基因半合子状态的转变可能在结肠直肠癌的发生发展中起重要作用。