Fahsold R, Habash T, Trautmann U, Haustein A, Pfeiffer R A
Gem. Prax. Prager & Junge, Dresden, Germany.
Hum Genet. 1995 Jul;96(1):65-9. doi: 10.1007/BF00214188.
The cosegregation of a reciprocal translocation t(17;19) (q11.2;13.2) with neurofibromatosis type 1 in three generations suggested that the breakpoint on chromosome 17 involved the NF1 gene. In order to map the breakpoint, we analysed DNAs of patients using parts of the NF1 gene as probes. Southern analysis revealed that the chromosome 17 breakpoint lies within intron 23 of the NF1 gene. One of the patients of the family developed a non-Hodgkin lymphoma. An additional translocation t(14;20) (q32;13.1) in his B lymphocytes points to a gene on chromosome 20 that is juxtaposed to the IGH locus on 14q32, and that may be of relevance for the development of this tumor type.
相互易位t(17;19)(q11.2;13.2)在三代人中与1型神经纤维瘤病共分离，提示17号染色体上的断裂点涉及NF1基因。为了定位断裂点，我们使用NF1基因的部分片段作为探针分析了患者的DNA。Southern分析显示，17号染色体的断裂点位于NF1基因的第23内含子内。该家族的一名患者发生了非霍奇金淋巴瘤。他的B淋巴细胞中存在额外的易位t(14;20)(q32;13.1)，这表明20号染色体上有一个基因与14q32上的IGH基因座并列，可能与这种肿瘤类型的发生有关。
