LaSalle J M, Lalande M
Howard Hughes Medical Institute, Genetics Division, Harvard Medical School, Boston, MA 02115, USA.
Science. 1996 May 3;272(5262):725-8. doi: 10.1126/science.272.5262.725.
Human chromosome 15q11-q13 encompasses the Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) loci, which are subject to parental imprinting, a process that marks the parental origin of certain chromosomal subregions. A temporal and spatial association between maternal and paternal chromosomes 15 was observed in human T lymphocytes by three-dimensional fluorescence in situ hybridization. This association occurred specifically at the imprinted 15q11-q13 regions only during the late S phase of the cell cycle. Cells from PWS and AS patients were deficient in association, which suggests that normal imprinting involves mutual recognition and preferential association of maternal and paternal chromosomes 15.
人类染色体15q11 - q13包含普拉德-威利综合征（PWS）和安吉尔曼综合征（AS）基因座，这些基因座会发生亲本印记，这是一个标记某些染色体亚区域亲本来源的过程。通过三维荧光原位杂交在人类T淋巴细胞中观察到母本和父本15号染色体之间存在时间和空间关联。这种关联仅在细胞周期的S期晚期特异性地发生在印记的15q11 - q13区域。来自PWS和AS患者的细胞缺乏这种关联，这表明正常的印记涉及母本和父本15号染色体的相互识别和优先关联。
