Leblanc T, Derré J, Flexor M, Le Coniat M, Leroux D, Rimokh R, Larsen C J, Berger R
INSERM U 301, Institute de Génétique Moléculaire, Paris, France.
Genes Chromosomes Cancer. 1997 Aug;19(4):273-7.
Deletion of the short arm of chromosome 9 (9p), resulting in the loss of the p16INK4a/MTS1 gene, now called CDKN2, has been found to occur frequently in acute lymphoblastic leukemia, even in the absence of a microscopically visible deletion. In this study, we have used YAC probes encompassing the CDKN2 locus to analyze by fluorescence in situ hybridization patients with leukemia and lymphoma and translocations involving 9p in order to establish the CDKN2 status in relation to the karyotype. We found that, in leukemic cells exhibiting loss of heterozygosity at the CDKN2 locus, the deleted allele was from the cytogenetically normal chromosome 9, whereas the other allele was located on a rearranged chromosome. This finding suggests that CDKN2 gene loss is nonrandomly associated with 9p translocation in lymphoid proliferations. Genes Chromosom.
现已发现，9号染色体短臂（9p）缺失导致p16INK4a/MTS1基因（现称为CDKN2）丢失的情况在急性淋巴细胞白血病中频繁发生，即便在显微镜下未发现可见的缺失。在本研究中，我们使用了包含CDKN2基因座的酵母人工染色体（YAC）探针，通过荧光原位杂交技术分析白血病和淋巴瘤患者以及涉及9p的易位情况，以便确定与核型相关的CDKN2状态。我们发现，在CDKN2基因座表现出杂合性缺失的白血病细胞中，缺失的等位基因来自细胞遗传学上正常的9号染色体，而另一个等位基因则位于重排的染色体上。这一发现表明，在淋巴增殖性疾病中，CDKN2基因丢失与9p易位存在非随机关联。《基因与染色体》
