Mapping the papillary renal cell carcinoma gene between loci D17S787 and D17S1799 on chromosome 17q21.32.
Mapping the papillary renal cell carcinoma gene between loci D17S787 and D17S1799 on chromosome 17q21.32.
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定位染色体 17q21.32 上 D17S787 和 D17S1799 位点之间的乳头状肾细胞癌基因。
DOI：
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
G. Kovacs
中科院分区：
文献类型：
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作者：
I. Bálint;J. Fischer;B. Ljungberg;G. Kovacs
17号染色体三体与乳头状肾细胞瘤（RCT）的发生有关。我们应用25个多态性微卫星标记对37个乳头状RCT进行了分析，发现在染色体17q21上存在一个重叠重复，包括D17S1795和D17S1306位点。然后在另外118例散发性和遗传性乳头状RCT中分析该区域。染色体17q21.32区域的重叠部分重复将乳头状RCT基因定位于基因座D17S787和D17S1799两侧的约300 kb基因组序列。总的来说，100个乳头状RCT中有92%在该区域显示等位基因重复。在任何类型的RCT中，我们都没有发现编码序列突变或肝白血病因子基因表达改变，该基因定位于最小重复间隔。因此，在300 kb区域内的另一个基因可能负责乳头状RCT的发展。
Trisomy of chromosome 17 is associated with the development of papillary renal cell tumors (RCT). We have analyzed 37 papillary RCT by applying 25 polymorphic microsatellite markers and found an overlapping duplication including loci D17S1795 and D17S1306 on chromosome 17q21. This region was then analyzed in additional 118 sporadic and hereditary papillary RCT. Overlapping partial duplications at the chromosome 17q21.32 region localized the papillary RCT gene to an approximately 300 kb genomic sequences flanked by loci D17S787 and D17S1799. Altogether, 92% of the 100 papillary RCT showed allelic duplication at this region. We did not find mutation in coding sequences or altered expression of the hepatic leukemia factor gene, which is mapped the smallest duplicated interval, in any type of RCT. Therefore, another gene within the 300 kb region might be responsible for the development of papillary RCT.