毛细胞白血病5q13.3断裂位点线性DNA荧光原位杂交定位

毛细胞白血病经常与５ｑ１３．３断裂位点相关联，该断裂位点区域及位于这一区域的重要基因有待研究。我们探索了ＤＮＡ纤维荧光原位杂交方法（即ＤＮＡ纤维ＦＩＳＨ）检测该断裂位点的可行性。实验选用含有断裂位点区域的两个基因组克隆及位于断裂位上是的两个ｃｏｓ质粒探针与带有结构性到位（５）（ｐ１３．１ｑ１３．３）的线性ＤＮＡ共杂交（ＤＮＡ来自ＨＣＬ患者的细胞系）。实验证明该断裂位点将探针信号一分为二。根据这些结果描绘出断裂位点区域图。研究表明，ＤＮＡ纤维ＦＩＳＨ方法是绘制高精度物理图谱和检出遗传重排的一种有效的研究手段。

Fiber FISH Mapping of the 5q13.3 Breakpoint Associated with Hair Cell Leukemia

Hairy cell leukemia (HCL) is frequently associated with a 5q13.3 breakpoint. The breakpoint area and the important gene associated with the region remains to be characterized. We tested the feasibility of DNA fiber fluorescence in situ hybridization (fiber FISH) for detection of the breakpoint. Two genomic clones covering the breakpoint region and two cosmid markers flanking the breakpoint were co hybridized to linear DNA fiber prepared from a cell line derived from a patient with HCL with a constitutional inv (5) (p13.1q13.3). We were able to show that the breakpoint splits the signals using certain clones in two parts and from these data a map of the breakpoint area was derived. The results indicate that fiber FISH is very useful for high resolution physical mapping as well as for detecting genetic rearrangements.