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人类B细胞肿瘤中位于视网膜母细胞瘤基因端粒处的一个新的肿瘤抑制基因座(DBM)的证据。

Evidence for a new tumour suppressor locus (DBM) in human B-cell neoplasia telomeric to the retinoblastoma gene.

作者信息

Brown A G, Ross F M, Dunne E M, Steel C M, Weir-Thompson E M

机构信息

MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK.

出版信息

Nat Genet. 1993 Jan;3(1):67-72. doi: 10.1038/ng0193-67.

Abstract

Roughly 25% of human B-cell chronic lymphocytic leukaemias (CLL) are characterized by a chromosomal lesion involving 13q14. This region contains the retinoblastoma gene (RB1). We have used a variety of techniques to determine whether RB1 or some other locus is the critical region in 11 cases of low grade B-cell malignancy (mainly CLL), all with deletions or translocations involving 13q14. In all cases, except the one with minimal disease, there was deletion or a structural lesion in the region of D13S25, with at least 4 cases showing homozygous disruption. We conclude that D13S25 lies close to a tumour suppressor locus whose inactivation contributes to the initiation or progression of low grade B-cell malignancy. This locus is located at least 530 kilobases telomeric to RB1.

摘要

大约25%的人类B细胞慢性淋巴细胞白血病(CLL)的特征是涉及13q14的染色体病变。该区域包含视网膜母细胞瘤基因(RB1)。我们运用了多种技术来确定在11例低度B细胞恶性肿瘤(主要是CLL)中,关键区域是RB1还是其他某个基因座,所有这些病例都存在涉及13q14的缺失或易位。在所有病例中,除了病情最轻的那一例,D13S25区域都存在缺失或结构病变,至少有4例显示纯合性破坏。我们得出结论,D13S25靠近一个肿瘤抑制基因座,其失活促成了低度B细胞恶性肿瘤的发生或进展。该基因座位于RB1端粒至少530千碱基处。

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