两个1型神经纤维瘤病（NF1）易位定位在17q11.2的一个600千碱基片段内。
Two NF1 translocations map within a 600-kilobase segment of 17q11.2.
作者信息
O'Connell P, Leach R, Cawthon R M, Culver M, Stevens J, Viskochil D, Fournier R E, Rich D C, Ledbetter D H, White R
机构信息
Howard Hughes Medical Institute, University of Utah, Salt Lake City 84132.
出版信息
Science. 1989 Jun 2;244(4908):1087-8. doi: 10.1126/science.2543077.
Balanced translocations, each involving chromosome 17q11.2, have been described in two patients with von Recklinghausen neurofibromatosis (NF1). To better localize the end points of these translocation events, and the NF1 gene (NF1) itself, human cosmids were isolated and mapped in the immediate vicinity of NF1. One cosmid probe, c11-1F10, demonstrated that both translocation breakpoints, and presumably NF1, are contained within a 600-kilobase Nru I fragment.
在两名患有冯·雷克林豪森神经纤维瘤病（NF1）的患者中，已发现了平衡易位，每次易位均涉及17号染色体q11.2区域。为了更好地定位这些易位事件的端点以及NF1基因（NF1）本身，分离出人类黏粒并将其定位在NF1基因紧邻区域。一个黏粒探针c11 - 1F10显示，两个易位断点以及推测的NF1基因均包含在一个600千碱基对的Nru I片段内。
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