Amiel Aliza, Goldzak Galit, Gaber Elena, Fejgin Moshe D
Genetic Institute, Meir Medical Center, 44281, Kfar-Saba, Israel.
Faculty of Life Science, Bar Ilan University, Israel.
J Hum Genet. 2006;51(6):541-547. doi: 10.1007/s10038-006-0395-4. Epub 2006 May 9.
Down syndrome (DS) is a multifactorial disorder with a high predisposition to leukemia and other malignancies. A change in the replication pattern from synchronous in normal genes to asynchronous in DS amniocytes has previously been reported. The objective of this study was to evaluate additional molecular cytogenetic factors which could re-emphasize the high correlation between DS cells and genetic instability. We found a higher rate of random aneuploidy in chromosomes 9 and 18 and a higher rate of asynchronous replication in the subtelomeric region or DS leukocytes than in cells from normal newborns. In addition, the telomere capture phenomenon was observed in the DS leukocytes but not in normal controls. The molecular cytogenetic factors observed in the DS individuals are known to correlate with genomic instability and with predisposition to cancer.
唐氏综合征（DS）是一种多因素疾病，极易患白血病和其他恶性肿瘤。此前有报道称，复制模式从正常基因中的同步复制转变为DS羊膜细胞中的异步复制。本研究的目的是评估其他分子细胞遗传学因素，这些因素可能会再次强调DS细胞与遗传不稳定性之间的高度相关性。我们发现，与正常新生儿的细胞相比，9号和18号染色体的随机非整倍体发生率更高，DS白细胞亚端粒区域的异步复制率也更高。此外，在DS白细胞中观察到了端粒捕获现象，而在正常对照中未观察到。DS个体中观察到的分子细胞遗传学因素已知与基因组不稳定性和癌症易感性相关。
