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急性淋巴细胞白血病中干扰素基因的缺失

Deletions of interferon genes in acute lymphoblastic leukemia.

作者信息

Diaz M O, Rubin C M, Harden A, Ziemin S, Larson R A, Le Beau M M, Rowley J D

机构信息

Department of Medicine, University of Chicago, IL 60637.

出版信息

N Engl J Med. 1990 Jan 11;322(2):77-82. doi: 10.1056/NEJM199001113220202.

Abstract

Structural rearrangements involving the short arm of chromosome 9, including bands 9p21 and 22, are found in the leukemia cells of 7 to 13 percent of patients with acute lymphoblastic leukemia. The interferon-alpha gene cluster and the interferon-beta 1 gene have been localized to this chromosomal region. We have previously demonstrated deletions of these genes in several cell lines established in vitro from patients with lymphoblastic leukemia. We report here homozygous or hemizygous deletions of the interferon-alpha and interferon-beta 1 genes in samples of leukemia cells from patients with lymphoblastic leukemia. Of 62 patients examined, 18 (29 percent) had such deletions. Four patients (7 percent) had homozygous deletions of the interferon-alpha gene cluster; of these, one also had a homozygous deletion and three had hemizygous deletions of the interferon-beta 1 gene. Fourteen patients (23 percent) had hemizygous deletions of both the interferon-alpha gene cluster and the interferon-beta 1 gene. In 8 of the 18 patients with deletions, the deletions of interferon genes were submicroscopic; in the 11 other patients, chromosomal rearrangements of 9p, including translocations or deletions, were visible on light microscopy. These chromosomal and molecular deletions are likely to be related to the loss of a tumor-suppressor gene (or genes) located on 9p, which may be an interferon gene or an unrelated but closely linked gene.

摘要

在7%至13%的急性淋巴细胞白血病患者的白血病细胞中,发现了涉及9号染色体短臂(包括9p21和22带)的结构重排。α干扰素基因簇和β1干扰素基因已定位到该染色体区域。我们之前已证实在从淋巴细胞白血病患者体外建立的多个细胞系中这些基因存在缺失。我们在此报告淋巴细胞白血病患者白血病细胞样本中α干扰素和β1干扰素基因的纯合或半合子缺失。在检测的62例患者中,18例(29%)有此类缺失。4例患者(7%)有α干扰素基因簇的纯合缺失;其中,1例同时有β1干扰素基因的纯合缺失,3例有半合子缺失。14例患者(23%)有α干扰素基因簇和β1干扰素基因的半合子缺失。在18例有缺失的患者中,8例的干扰素基因缺失是亚显微的;在其他11例患者中,9p的染色体重排,包括易位或缺失,在光学显微镜下可见。这些染色体和分子缺失可能与位于9p上的一个(或多个)肿瘤抑制基因的缺失有关,该基因可能是一个干扰素基因或一个不相关但紧密连锁的基因。

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