[脆性X综合征患者的自发和诱导染色体不稳定性]

[Spontaneous and induced chromosome instability in patients with fragile X syndrome].

作者信息

Suleĭmanova D G, Kuleshov N P

出版信息

Genetika. 1987 Mar;23(3):504-9.

Abstract

Spontaneous and degranol- and dimatiph-induced chromosomal instability in the lymphocyte culture of patients with fra-X syndrome was investigated. The cultures contained TC 199 and 5% FC serum. It was found that the frequency of spontaneous chromosomal aberrations (CA) was 7.3% in cells from patients with fra(X), 3.9% in patients with MR of unknown origin, and 1.3% in normal individuals. Spontaneous break-points in the patients with fra(X) were localized in 1p, 2q, 3p, 6q, 7q, 16 q more often than in normal individuals. No significant difference was found in SCEs. The cells of patients with fra(X) were not sensitive to the induction of CA by degranol. It was found that chromosomal telomeric changes (CTC) were mutagen-independent, remaining at the spontaneous level: in the patients with fra(X) CTC were 10.5% (9.5% fra-Xq27, and 1% autosomal telomeric changes); in normal individuals CTC were 0.1%.

摘要

研究了脆性X综合征患者淋巴细胞培养中的自发以及由德格拉诺和地马替诱导的染色体不稳定性。培养物中含有TC 199和5%胎牛血清。结果发现，脆性X患者细胞中的自发染色体畸变（CA）频率为7.3%，不明原因智力迟钝患者为3.9%，正常个体为1.3%。脆性X患者的自发断点比正常个体更常定位于1p、2q、3p、6q、7q、16q。姐妹染色单体交换（SCE）未发现显著差异。脆性X患者的细胞对德格拉诺诱导的CA不敏感。发现染色体端粒变化（CTC）与诱变剂无关，保持在自发水平：脆性X患者中CTC为10.5%（脆性Xq27为9.5%，常染色体端粒变化为1%）；正常个体中CTC为0.1%。