Asynchronous replication of allelic loci in Down syndrome
Asynchronous replication of allelic loci in Down syndrome
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DOI：
10.1038/sj.ejhg.5200199
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发表时间：
1998-07-01
影响因子：
5.2
通讯作者：
Fejgin, MD
中科院分区：
文献类型：
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作者：
Amiel, A;Avivi, L;Fejgin, MD
我们使用 FISH 来确定唐氏综合症胎儿（羊水）细胞样本和正常胎儿中与 21 号染色体无关的四对等位基因（p53、HER2、RB1 和 c-myc）复制时间的同步水平。来自唐氏综合症受试者的所有样本在复制时间上均表现出较大的时间差异，这与正常个体的所有样本中显示的高同步水平形成鲜明对比。因此，根据与 21 号染色体无关的四个独立基因座判断，唐氏综合症基因组中的额外染色体会诱导等位基因对复制模式的变化：从同步模式特征到伴随表达的等位基因，到等位基因表现出等位基因特异性表达模式的不同步模式。
We have used FISH to determine the level of sychronisation in replication timing of four pairs of alleles, unrelated to chromosome 21 (p53, HER2, RB1, and c-myc), in foetal (amniotic fluid) cell samples of Down syndrome and in normal foetuses, All samples derived from the Down syndrome subjects showed large temporal differences in replication timing, in contrast to the high level of synchrony shown in all samples of normal individuals. Thus, as judged by four independent loci which are not associated with chromosome 21, the additional chromosome in the Down syndrome genome induces changes in the replication pattern of an allelic pair: from a synchronous pattern characteristic to concomitantly expressed alleles to an unsychronised one shown by alleles displaying an allele-specific mode of expression.