Shipley J M, Birdsall S, Clark J, Crew J, Gill S, Linehan M, Gnarra J, Fisher S, Craig I W, Cooper C S
Molecular Cytogenetics Laboratory, Institute of Cancer Research, Belmont, Sutton, Surrey, UK.
Cytogenet Cell Genet. 1995;71(3):280-4. doi: 10.1159/000134127.
A t(X;1)(p11.2;q21.2) has been reported in cases of papillary renal cell tumors arising in males. In this study two cell lines derived from this tumor type have been used to indicate the breakpoint region on the X chromosome. Both cell lines have the translocation in addition to other rearrangements and one is derived from the first female case to be reported with the t(X;1)(p11.2;q21.2). Fluorescence in situ hybridization (FISH) has been used to position YACs belonging to contigs in the Xp11.2 region relative to the breakpoint. When considered together with detailed mapping information from the Xp11.2 region the position of the breakpoint in both cell lines was suggested as follows: Xpter-->Xp11.23-OATL1-GATA1-WAS-TFE3-SY P-t(X;1)-DXS255-CLCN5-DXS146-OATL2- Xp11.22-->Xcen. The breakpoint was determined to lie in an uncloned region between SYP and a YAC called FTDM/1 which extends 1 Mb distal to DXS255. These results are contrary to the conclusion from previous FISH studies that the breakpoint was near the OATL2 locus, but are consistent with, and considerably refine, the position that had been established by molecular analysis.
在男性发生的乳头状肾细胞肿瘤病例中曾报道过t(X;1)(p11.2;q21.2)。在本研究中，源自这种肿瘤类型的两个细胞系被用于确定X染色体上的断点区域。两个细胞系除了有其他重排外都有这种易位，其中一个源自首例报道的患有t(X;1)(p11.2;q21.2)的女性病例。荧光原位杂交（FISH）已被用于将属于重叠群的YAC定位在相对于断点的Xp11.2区域。当与来自Xp11.2区域的详细图谱信息一起考虑时，两个细胞系中断点的位置如下所示：Xpter→Xp11.23 - OATL1 - GATA1 - WAS - TFE3 - SY P - t(X;1) - DXS255 - CLCN5 - DXS146 - OATL2 - Xp11.22→Xcen。断点被确定位于SYP和一个名为FTDM/1的YAC之间的一个未克隆区域，该YAC在DXS255远端延伸1 Mb。这些结果与先前FISH研究得出的断点位于OATL2基因座附近的结论相反，但与分子分析所确定的位置一致，并对其进行了相当大的细化。
