Palmedo G, Fischer J, Kovacs G
Department of Urology, Ruprecht-Karls-University of Heidelberg, Germany.
Lab Invest. 1999 Mar;79(3):311-6.
Trisomy of chromosome 20 is associated with the progression of papillary renal cell carcinomas (RCC). To define the gene loci, we have analyzed 40 tumors by applying 18 polymorphic microsatellite markers. An allelic imbalance at all informative loci was seen in 14 cases. Partial duplications of chromosome 20 in 14 tumors delineated four nonsyntenic regions: region A at chromosome 20p12-p13, regions B and C at chromosome 20q11.2, and region D at chromosome 20q13.2. Region B was bracketed by loci D20S206 and D20S478, both mapped to 54 cM and both excluded. The smallest overlapping duplication at region D was scaled down to the region between loci D20S480 and D29S902 marking approximately 100-kb genomic sequences. Allelic duplication in papillary RCC was confirmed by fluorescence in situ hybridisation analysis by using BAC clones 441o14 and 354n14 positive for the flanking loci at region B. Altogether 70% of papillary RCC showed genetic changes at least at one of the four regions, but coalteration of two or more regions was seen in most cases.
20号染色体三体与乳头状肾细胞癌（RCC）的进展相关。为了确定基因位点，我们应用18个多态性微卫星标记分析了40个肿瘤。在14例病例中观察到所有信息位点的等位基因失衡。14个肿瘤中20号染色体的部分重复划定了四个非共线性区域：20号染色体p12 - p13的A区域，20号染色体q11.2的B和C区域，以及20号染色体q13.2的D区域。B区域位于D20S206和D20S478位点之间，二者均定位到54 cM且均被排除。D区域最小的重叠重复区域缩小到D20S480和D29S902位点之间的区域，标记了大约100 kb的基因组序列。通过使用对B区域侧翼位点呈阳性的BAC克隆441o14和354n14进行荧光原位杂交分析，证实了乳头状RCC中的等位基因重复。总共70%的乳头状RCC至少在四个区域中的一个区域显示出基因变化，但在大多数情况下观察到两个或更多区域的改变。
