Hirst M C, Bell M V, MacKinnon R N, Watson J E, Callen D, Sutherland G, Dahl N, Patterson M N, Schwartz C, Ledbetter D
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Am J Med Genet. 1991 Feb-Mar;38(2-3):354-6. doi: 10.1002/ajmg.1320380238.
We have localized the gene encoding a cerebellar degeneration related (CDR) protein to a region proximal to the fragile site close to DXS98 and DXS105. This gene is polymorphic with the enzyme RsaI and therefore also provides a new genetic marker in this region. We have refined the localization of the locus DXS304 distal to the breakpoint in a patient suffering from Hunter disease. This confirms the localization of DXS304 distal to the fragile site previously suggested by linkage studies and localizes the fragile X mutation to a relatively small region between the Hunter breakpoint and the breakpoint in another hybrid B17.
我们已将编码一种与小脑变性相关（CDR）蛋白的基因定位到靠近DXS98和DXS105的脆性位点近端的一个区域。该基因在RsaI酶切时具有多态性，因此也为该区域提供了一个新的遗传标记。我们已精确确定了一名患有亨特病患者中位于断裂点远端的DXS304位点的定位。这证实了连锁研究先前提出的DXS304位于脆性位点远端的定位，并将脆性X突变定位到亨特病断裂点与另一个杂种B17中的断裂点之间的一个相对较小的区域。
