CLONING AND ANALYSIS OF A NOVEL TUMOR SUPPRESSOR GENE

描述：研究人员已经确定了染色体3q的一个亚区 发生肿瘤特异性的结构杂合性丢失(LOH) 骨肉瘤发生过程中的高频率。陆恭蕙经常 与肿瘤抑制基因在区域内的存在有关 呵呵。骨畸形综合征Brachmann-DeLange综合征也映射到 这一区域提示肿瘤抑制基因和 畸形综合征可能是同一个基因。因此，这一行动的具体目标是 建议：1)从D3S1212-D3S1246中分离候选cDNA 区域；2)对表达模式的候选cDNA进行特征 符合骨肉瘤抑癌基因活性；3)进行 骨肉瘤相关候选基因的突变分析 骨肉瘤抑癌基因的表达模式 活性；4)进行遗传突变分析 家族性骨肉瘤和Brachmann-DeLange综合征患者。

DESCRIPTION: The investigators have identified a subregion of chromosome 3q that undergoes tumor-specific loss of constitutional heterozygosity (LoH) at high frequency during osteosarcoma tumorigenesis. LoH is frequently associated with the presence of tumor suppressor gene within the region of LoH. A bone dysmorphology syndrome Brachmann-DeLange syndrome also maps to this region suggesting that the tumor suppressor gene and the locus for the dysmorphology syndrome may be the same gene. Thus the specific aims of this proposal are: 1) To isolate candidate cDNAs from within the D3S1212-D3S1246 region; 2) To character the candidate cDNAs for expression patterns consistent with osteosarcoma tumor suppressor gene activity; 3) To conduct mutational analysis in osteosarcoma tumors on those candidate cDNAs with expression patterns consistent with osteosarcoma tumor suppressor gene activity; 4) to conduct mutational analysis for inherited mutations in familial osteosarcoma and Brachmann-DeLange syndrome patients.