Brown A G, Ross F M, Dunne E M, Steel C M, Weir-Thompson E M
MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK.
Nat Genet. 1993 Jan;3(1):67-72. doi: 10.1038/ng0193-67.
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.
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。
