Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17.
Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17.
复制标题
17 号染色体冯·雷克林豪森神经纤维瘤病区域内易位的特征。
DOI：
10.1016/0888-7543(89)90053-0
复制
发表时间：
1989
期刊：
影响因子：
4.4
通讯作者：
Haines,JL
中科院分区：
文献类型：
--
作者：
Menon,AG;Ledbetter,DH;Rich,DC;Seizinger,BR;Rouleau,GA;Michels,VF;Schmidt,MA;Dewald,G;DallaTorre,CM;Haines,JL
The genetic defect causing von Recklinghausen neurofibromatosis (NF1) has been mapped to the proximal long arm of chromosome 17 by linkage analysis. Flanking markers have been identified, bracketingNF1in 17q11.2 and laying the foundation for isolating the disease gene. Recently, a family in which a mother and her two children show both the symptoms of NF1 and the presence of a balanced translocation, t(1;17)(p34.3; q11.2), has been identified. We have examined the possibility that the translocation has occurred in or near theNF1gene by constructing a somatic cell hybrid line containing the derivative chromosome 1 (1qter-p34.3::17q11-qter). On chromosome 1, the breakpoint occurred betweenSRC2andD1S57, which are separated by 14 cM. The translocation breakpoint was localized on chromosome 17 betweenD17S33andD17S57, markers that also flankNF1within a region of 4 cM. These data are consistent with the possibility that the translocation event is the cause of NF1 in this pedigree. Consequently, the isolation of the translocation breakpoint, by approach from either the chromosome 1 or the chromosome 17 side, may facilitate the identification of theNF1gene.
