Yurov Y B, Mitkevich S P, Alexandrov I A
Hum Genet. 1987 Jun;76(2):157-64. doi: 10.1007/BF00284914.
The cloned alpha-satellite DNA sequences were used to evaluate the specificity and possible variability of repetitive DNA in constitutive heterochromatin of human chromosomes. Five probes with high specificity to individual chromosomes (chromosomes 3, 11, 17, 18, and X) were in situ hybridized to metaphase chromosomes of different individuals. The stable position of alpha-satellite DNA sequences in heterochromatic regions of particular chromosomes was found. Therefore, the chromosome-specific alpha-satellite DNA sequences may be used as molecular markers for heterochromatic regions of certain human chromosomes. The homologous chromosomes of many individuals were characterized by cytologically visible heteromorphisms of hybridization intensity with chromosome-specific alpha-satellite DNA sequences. A special analysis of hybridization between homologues with morphological differences provided the evidence for a high resolution power of the in situ hybridization technique for evaluation of chromosome heteromorphisms. The approaches for detection of heteromorphisms in cases without morphological differences between homologues are discussed. The results obtained indicate that constitutive heterochromatin of human chromosomes has a variable amount of alpha-satellite DNA sequences. In situ hybridization of cloned satellite DNA sequences may be used as a new general approach to analysis of chromosome heteromorphisms in man.
克隆的α-卫星DNA序列用于评估人类染色体组成型异染色质中重复DNA的特异性和可能的变异性。五个对个别染色体（3号、11号、17号、18号和X染色体）具有高特异性的探针与不同个体的中期染色体进行原位杂交。发现α-卫星DNA序列在特定染色体异染色质区域中的稳定位置。因此，染色体特异性α-卫星DNA序列可作为某些人类染色体异染色质区域的分子标记。许多个体的同源染色体在细胞学上表现为与染色体特异性α-卫星DNA序列杂交强度的可见异态性。对具有形态差异的同源染色体之间杂交的特殊分析为原位杂交技术评估染色体异态性的高分辨率能力提供了证据。讨论了在同源染色体之间无形态差异的情况下检测异态性的方法。所得结果表明，人类染色体的组成型异染色质具有可变数量的α-卫星DNA序列。克隆卫星DNA序列的原位杂交可作为分析人类染色体异态性的一种新的通用方法。
