Harris P, Boyd E, Young B D, Ferguson-Smith M A
Cytogenet Cell Genet. 1986;41(1):14-21. doi: 10.1159/000132190.
The mean relative DNA content of each human chromosome was calculated from flow karyotypes of ethidium bromide-stained chromosomes obtained from healthy, normal individuals. These values were found to correlate closely with previously published data obtained by photometric scanning of stained, fixed chromosomes. Calculations of the normal variation in DNA content of each human chromosome indicated that chromosomes 1, 9, 16, and Y (chromosomes with large centric heterochromatic regions) were the most variable, followed by the acrocentrics, 13, 14, 15, 21, and 22. Chromosomes 2, 3, 18, and 19 were also found to vary significantly in DNA content. Chromosomes from a number of subjects with extreme heteromorphisms were flow karyotyped to obtain an estimate of the extent of variation in DNA content of each chromosome. The greatest difference between extreme variants was found for chromosome 1 (which differed by 0.82% of the total genomic DNA), followed by 16 and 9. The largest Y-chromosome variant was 85.9% bigger than the smallest. The precise karyotype analysis produced by flow cytometry resolved many differences between chromosome homologs, including some that cannot be readily distinguished cytogenetically. The implications of these findings for detection of chromosome abnormalities by flow karyotype analysis are discussed.
从健康正常个体的溴化乙锭染色染色体的流式核型中计算出每个人类染色体的平均相对DNA含量。发现这些值与先前通过对染色固定染色体进行光度扫描获得的数据密切相关。对每个人类染色体DNA含量正常变异的计算表明，1号、9号、16号和Y染色体（具有大的着丝粒异染色质区域的染色体）变异最大，其次是近端着丝粒染色体13、14、15、21和22。还发现2号、3号、18号和19号染色体的DNA含量也有显著差异。对一些具有极端异态性的受试者的染色体进行流式核型分析，以估计每个染色体DNA含量的变异程度。发现1号染色体的极端变异体之间差异最大（相差总基因组DNA的0.82%），其次是16号和9号染色体。最大的Y染色体变异体比最小的大85.9%。流式细胞术产生的精确核型分析解决了染色体同源物之间的许多差异，包括一些用细胞遗传学方法难以区分的差异。讨论了这些发现对通过流式核型分析检测染色体异常的意义。
