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目的:通过对脊柱裂(spina bifida)胚胎脑组织中微卫星不稳定性(microsatellite instability,MSI)的分析,探讨遗传不稳定性是否为此疾病的特征之一,进而研究错配修复系统(mismatch repair,MMR)与脊柱裂发病的分子机制。方法:19例脊柱裂和19例非神经管畸形对照脑组织中提取DNA;尿素变性凝胶电泳法检测标本中MSI发生情况。结果:在19例脊柱裂脑组织中9例MSI阳性,阳性率47.4%。其中2例为高度微卫星不稳定(high frequency microsatellite instability,MSI-H),7例为低度微卫星不稳定(lowfrequency microsatellite instability,MSI-L),其余10例为微卫星稳定(microsatellite stable,MSS),对照组中未出现MSI。选择的5个微卫星位点MSI的阳性率分别为Bat34C4(10.5%)、Bat26(26.5%)、D2S123(10.5%)、D3S1611(5.3%),D2S119(5.3%)。结论:脊柱裂中存在MSI现象,提示MSI、错配修复系统可能与脊柱裂的发生有一定关系。
OBJECTIVE: To investigate whether genetic instability is one of the hallmarks of this disease by analyzing microsatellite instability (MSI) in the brain tissue of spina bifida embryos and then to investigate mismatch repair, MMR) and the pathogenesis of spina bifida. Methods: DNA was extracted from 19 cases of spina bifida and 19 cases of non-neural tube defects. MSU was detected by urea denaturing gel electrophoresis. Results: In 19 cases of spina bifida, 9 cases were positive for MSI, the positive rate was 47.4%. Two of them were high frequency microsatellite instability (MSI-H), seven were low-frequency microsatellite instability (MSI-L) and the other ten were microsatellite stable MSS), MSI did not appear in the control group. The positive rates of MSI at five microsatellite loci were Bat34C4 (10.5%), Bat26 (26.5%), D2S123 (10.5%), D3S1611 (5.3%) and D2S119 (5.3%). Conclusion: There is MSI phenomenon in spina bifida, suggesting that MSI and mismatch repair system may be related to the occurrence of spina bifida.