RAPID DETECTION OF HUMAN CHROMOSOME-21 ABERRATIONS BY INSITU HYBRIDIZATION
RAPID DETECTION OF HUMAN CHROMOSOME-21 ABERRATIONS BY INSITU HYBRIDIZATION
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DOI：
10.1073/pnas.85.24.9664
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发表时间：
1988-12-01
影响因子：
11.1
通讯作者：
WARD, DC
中科院分区：
文献类型：
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作者：
LICHTER, P;CREMER, T;WARD, DC
质粒克隆含有来自 21 号染色体带 q22.3 的多达 94 KB 的单拷贝 DNA 和来自 21 号染色体重组文库的完整插入 DNA 库，已用于通过中期和间期细胞中的原位杂交快速检测 21 号染色体的数值和结构畸变。诊断唐氏综合症的三体核型很容易在非有丝分裂细胞中检测到，因为它们的大多数细胞核表现出三个离散的杂交灶，而正常的二倍体细胞则表现出两个杂交灶。还用这些探针检测到涉及21号染色体序列的染色体易位，并用质粒DNA探针组确定了“正常”人脑神经元中21q22.3 DNA序列的核内位置。这些结果表明 21 号染色体特异性探针可能在临床诊断中具有实用性，特别是通过促进间期细胞的直接分析。
Plasmid clones containing up to 94 kilobases of single-copy DNA from band q22.3 of chromosome 21 and a complete pool of insert DNA from a chromosome 21 recombinant library have been used to rapidly detect numerical and structural aberrations of chromosome 21 by in situ hybridization in both metaphase and interphase cells. A trisomic karyotype, diagnostic of Down syndrome, is readily detected in nonmitotic cells because the majority of their nuclei exhibit three discrete foci of hybridization, in contrast to normal diploid cells, which show two foci. Chromosomal translocations involving chromosome 21 sequences were also detected with these probes, and the intranuclear location of 21q22.3 DNA sequences in "normal" human brain neurons was established with the plasmid DNA probe set. These results suggest that chromosome 21-specific probes may have utility in clinical diagnostics, especially by facilitating the direct analysis of interphase cells.