Colb M, Yang-Feng T, Francke U, Mermer B, Parkinson D R, Krontiris T G
Nucleic Acids Res. 1986 Oct 24;14(20):7929-37. doi: 10.1093/nar/14.20.7929.
A highly polymorphic locus associated with the variable tandem repetition of a 35 bp consensus sequence was mapped to chromosome 10, band q26. Examination of leukocyte DNA from a cancer patient revealed the twenty-fold amplification of one allelic fragment of this locus, while the other allelic fragment demonstrated a normal copy number. In another patient, Southern blotting of leukocyte DNA detected the deletion of the 3'-flanking region from one tandem repeat allele. These results indicate that variable tandem repeats may mark highly unstable regions of DNA in the human genome which can be altered by changes more extensive than simple tandem repeat variation.
一个与35bp共有序列可变串联重复相关的高度多态性位点被定位到10号染色体q26带。对一名癌症患者白细胞DNA的检测发现，该位点的一个等位基因片段扩增了20倍，而另一个等位基因片段的拷贝数正常。在另一名患者中，白细胞DNA的Southern印迹检测到一个串联重复等位基因的3'侧翼区域缺失。这些结果表明，可变串联重复可能标记了人类基因组中DNA的高度不稳定区域，这些区域可能因比简单串联重复变异更广泛的变化而改变。
