Chou D, Miyashita T, Mohrenweiser H W, Ueki K, Kastury K, Druck T, von Deimling A, Huebner K, Reed J C, Louis D N
Department of Pathology, Massachusetts General Hospital, Boston, USA.
Cancer Genet Cytogenet. 1996 Jun;88(2):136-40. doi: 10.1016/0165-4608(95)00341-x.
The bax protein regulates apoptosis in a cellular pathway that involves both bcl-2 and p53, two molecules associated with human glioma tumorigenesis. We therefore evaluated the possibility that BAX functions as a glioma tumor suppressor gene. Somatic cell hybrid panels, fluorescence in situ hybridization and cosmid mapping localized the BAX gene to 19q13.3, approximately 300 kb centromeric to HRC. Thus BAX maps to the region of chromosome 19 most frequently deleted in gliomas. Routine and pulsed-field gel electrophoresis/Southern blotting studies, however, failed to reveal large-scale deletions or rearrangements of the BAX gene in gliomas. In addition, single strand conformation polymorphism analysis of all six BAX exons and flanking intronic sequences did not disclose mutations in 20 gliomas with allelic loss of the other copy of 19q. A C/T polymorphism was detected in intron 3 and was common in the general population. Therefore, although BAX maps to the glioma candidate region on the long arm of chromosome 19, BAX is probably not the 19q glioma tumor suppressor gene.
bax蛋白在一条涉及bcl-2和p53的细胞途径中调节细胞凋亡，这两个分子与人胶质瘤的肿瘤发生有关。因此，我们评估了BAX作为胶质瘤肿瘤抑制基因发挥作用的可能性。体细胞杂交板、荧光原位杂交和粘粒作图将BAX基因定位于19q13.3，距HRC着丝粒约300 kb。因此，BAX定位于胶质瘤中最常缺失的19号染色体区域。然而，常规和脉冲场凝胶电泳/ Southern印迹研究未能揭示胶质瘤中BAX基因的大规模缺失或重排。此外，对所有六个BAX外显子和侧翼内含子序列进行单链构象多态性分析，未发现20例19q另一个拷贝等位基因缺失的胶质瘤中有突变。在第3内含子中检测到一个C/T多态性，在普通人群中很常见。因此，尽管BAX定位于19号染色体长臂上的胶质瘤候选区域，但BAX可能不是19q胶质瘤肿瘤抑制基因。
