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通过间期细胞遗传学检测慢性淋巴细胞白血病中的单等位基因p53缺失。

Monoallelic p53 deletion in chronic lymphocytic leukemia detected by interphase cytogenetics.

作者信息

Amiel A, Arbov L, Manor Y, Fejgin M, Elis A, Gaber E, Lishner M

机构信息

Department of Medicine, Meir Hospital, Kfar Saba, Israel.

出版信息

Cancer Genet Cytogenet. 1997 Sep;97(2):97-100. doi: 10.1016/s0165-4608(96)00341-x.

DOI:10.1016/s0165-4608(96)00341-x
PMID:9283589
Abstract

Chromosomal aberrations can be detected in 50% of patients with chronic lymphocytic leukemia (CLL). A role for tumor suppressor genes in the genesis of lymphoid tumors has been reported. In B-CLL, p53 gene mutations were found in 10-15% of the patients. We used fluorescence in situ hybridization (FISH) to detect p53 deletion in B-CLL. We also correlated the cytogenetic findings with the clinical course. In situ hybridization to interphase nuclei showed monallelic p53 deletion in 6 of 23 patients (26%). The percentage of cells with one p53 signal ranged from 12 to 100. A statistically significant correlation between p53 deletion and progression of CLL was demonstrated. We conclude that FISH is a sensitive and reliable method to detect deletion of specific genes (i.e., p53) in CLL. The finding of p53 deletion is associated with disease progression.

摘要

50%的慢性淋巴细胞白血病(CLL)患者可检测到染色体畸变。有报道称肿瘤抑制基因在淋巴肿瘤的发生中起作用。在B-CLL中,10%-15%的患者发现有p53基因突变。我们使用荧光原位杂交(FISH)检测B-CLL中的p53缺失。我们还将细胞遗传学结果与临床病程相关联。对间期核进行原位杂交显示,23例患者中有6例(26%)存在单等位基因p53缺失。具有一个p53信号的细胞百分比在12%至100%之间。p53缺失与CLL进展之间存在统计学上的显著相关性。我们得出结论,FISH是检测CLL中特定基因(即p53)缺失的一种敏感且可靠的方法。p53缺失的发现与疾病进展相关。

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