Fulchignoni-Lataud M C, Olchwang S, Serre J L
Laboratoire de cytogénétique et de, genétique moléculaire humaine, Université de Versailles, France.
Eur J Hum Genet. 1997 Mar-Apr;5(2):89-93.
The allelic variation of the FMR1 CGG repeat was investigated by small-pool PCR in nonneoplastic peripheral blood leukocytes from HNPCC patients and matched controls for similar CGG repeat lengths. The allelic variation for repeat lengths appears to be roughly twice as frequent in HNPCC patients as in controls, especially when patients are mutated in hMLH1. There are more expansions in HNPCC patients (42%) than in controls (20%) but this difference is statistically borderline. The mean length of expansions relative to the genuine size did not differ in HNPCC patients or controls (respectively 17% and 20% of the constitutional allelic length). The reported data suggest that instability within nonneoplastic cells of a subset of HNPCC patients might be one mechanism for transition from normal to the premutation range of the FMR1 CGG repeat.
通过小池聚合酶链反应（small-pool PCR）对HNPCC患者非肿瘤性外周血白细胞以及CGG重复长度相似的匹配对照中FMR1 CGG重复序列的等位基因变异进行了研究。重复长度的等位基因变异在HNPCC患者中的出现频率似乎约为对照的两倍，尤其是当患者的hMLH1发生突变时。HNPCC患者中出现扩增的比例（42%）高于对照（20%），但这种差异在统计学上接近临界值。相对于真实大小的扩增平均长度在HNPCC患者和对照中并无差异（分别为构成性等位基因长度的17%和20%）。所报道的数据表明，一部分HNPCC患者非肿瘤细胞内的不稳定性可能是FMR1 CGG重复序列从正常范围转变为前突变范围的一种机制。
