Gourdon G, Dessen P, Lia A S, Junien C, Hofmann-Radvanyi H
INSERM. U 383, Hôpital Necker-Enfants Malades, Université René, Paris V, France.
Ann Genet. 1997;40(2):73-7.
Expansion of (C+G)-rich trinucleotide repeats has been shown to be associated with several autosomal or X-linked genetic diseases and/or fragile sites. By analysing the sequences available in the databases, we found, in a significant proportion of triplet associated genes or fragile sites (11/12), a CpG island close to the trinucleotide repeat. This association led us to assume that flanking regions and chromatin structure near the triplets might play a role in repeat instability.
富含(C+G)的三核苷酸重复序列的扩增已被证明与几种常染色体或X连锁遗传病和/或脆性位点有关。通过分析数据库中可用的序列,我们发现在相当一部分与三联体相关的基因或脆性位点(12个中的11个)中,靠近三核苷酸重复序列处存在一个CpG岛。这种关联使我们推测,三联体附近的侧翼区域和染色质结构可能在重复序列的不稳定性中起作用。