一种染色体缺失综合征与原癌基因CBL2内一个脆性位点的关联。
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.
作者信息
Jones C, Penny L, Mattina T, Yu S, Baker E, Voullaire L, Langdon W Y, Sutherland G R, Richards R I, Tunnacliffe A
机构信息
Department of Pathology, University of Cambridge, UK.
出版信息
Nature. 1995 Jul 13;376(6536):145-9. doi: 10.1038/376145a0.
The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.
脆性位点FRA11B已被定位到原癌基因CBL2的p(CCG)n重复序列上。一部分雅各布森（11q-）综合征患者遗传了一条携带CBL2 p(CCG)n扩增的染色体，该扩增在靠近FRA11B处被截断。这些结果对于p(CCG)n重复序列扩增在涉及染色体重排的遗传疾病病因学中的作用具有广泛的意义。
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