Houwen R H, Pautler S E, Barwell J A, Arden K, Buchanan J A, James C D, Cavenee W K, Buys C H, Cowell J K, Cox D W
Research Institute, Hospital for Sick Children, Toronto, Ont., Canada.
Cytogenet Cell Genet. 1991;57(2-3):87-90. doi: 10.1159/000133120.
Clones were isolated from two flow-sorted chromosome 13 libraries. Twenty-five clones were localized to various regions of chromosome 13, using a well-characterized panel of rodent x human hybrid cell lines. Eight DNA markers were localized to 13q14.2----q22, where the gene for Wilson disease, a recessive disorder of copper metabolism, was previously assigned. The new markers will be useful for the diagnosis of presymptomatic sibs of Wilson disease patients. We isolated six DNA clones proximal to the retinoblastoma gene, a region in which a translocation associated with rhabdomyosarcoma has been observed. Probes for both of these regions will be useful for the cloning of the genes involved in these diseases.
从两个经流式细胞术分选的13号染色体文库中分离出克隆。利用一组特征明确的啮齿动物×人类杂交细胞系,将25个克隆定位到13号染色体的不同区域。8个DNA标记定位到13q14.2----q22,此前已将铜代谢隐性疾病威尔逊病的基因定位于此区域。这些新标记将有助于对威尔逊病患者的无症状同胞进行诊断。我们在视网膜母细胞瘤基因近端分离出6个DNA克隆,在该区域观察到与横纹肌肉瘤相关的易位。这两个区域的探针将有助于克隆涉及这些疾病的基因。