| 用DSCR Cosmid DNA探针快速基因诊断先天愚型 |
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| 引用本文： | 张励,于灵,李福才,金春莲,孙开来.用DSCR Cosmid DNA探针快速基因诊断先天愚型[J].临床军医杂志,2000,28(1):5-6. |
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| 作者姓名： | 张励 于灵 李福才 金春莲 孙开来 |
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| 作者单位： | 1. 解放军大连医高专,辽宁,大连,116017
2. 中国医科大学,辽宁,沈阳,110001 |
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| 摘 要： | 目的 采用DSCRCosmidDNA探针作为检测先天愚型的特异性探针。方法 对 46例先天愚型患者外周血淋巴细胞分别在经过细胞培养和不经细胞培养两种处理条件下同时进行FISH检测 ,结果 在中期染色体和间期细胞核中观察到 3个杂交信号 ,杂交率均为 81%～ 95 %。结论 表明DSCRCosmidDNA探针可直接在未经培养的淋巴细胞间期核中进行FISH检测。 48h内能对先天愚型患者做出快速、准确的诊断。
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| 关 键 词： | 先天愚型 荧光原位杂交 脱氧核糖核酸探针 |
| 文章编号： | 1007-1725(2000)01-0005-02 |
| 修稿时间： | 1999年5月25日 |
Rapid Gentic Diagnosis of Trisomy 21 by DSCR Cosmid DNA Probe |
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| ZHANG Li,YU Ling,LI Fu cai,et al.Rapid Gentic Diagnosis of Trisomy 21 by DSCR Cosmid DNA Probe[J].Clinical Journal of Medical Officer,2000,28(1):5-6. |
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| Authors: | ZHANG Li YU Ling LI Fu cai |
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| Abstract: | Objective To study clinic diagnosis of trisomy 21 at level of cell molecule by FISH Method DSCR Cosmid DNA probe is used as the specific probe of detecting trisomy 21, which came from specific KU21D library chromosome 21 (carrier is 6.7 kb, insert sequence is 35 kb) and was located in 21q22.2 46 trisomy 21 cases were detected by FISH on cultured and uncultured lymphoblastoid cell Result showed that there were three hybrizatic signals distributed on metaphase three chromosome 21 Hybrization rate was 81%～95% Conclusion Our experience indicates trisomy 21 can be diagnosed rapidly and accuratly by DSCR Cosmid DNA probe in uncultured lymphoblastoid interphase unclei |
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| Keywords: | down syndrome fluorescence in situ hybridization(FISH) DSCR Cosmid DNA probe |
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