Buiting K, Neumann M, Lüdecke H J, Senger G, Claussen U, Antich J, Passarge E, Horsthemke B
Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.
Genomics. 1990 Mar;6(3):521-7. doi: 10.1016/0888-7543(90)90481-9.
The Prader-Willi syndrome chromosome region on the long arm of human chromosome 15 was microdissected and microcloned from 20 GTG-banded metaphase chromosomes, and 5000 recombinant clones were obtained. Of these clones, 39% identify single-copy human DNA sequences, most of which map to the dissected chromosome region and are evolutionarily conserved in other species. Three of eleven clones studied in detail are deleted in several patients with Prader-Willi syndrome. The microclones will be useful for the physical characterization of the Prader-Willi syndrome chromosome region and the identification of the affected genes in this disease.
从20条经GTG显带的中期染色体上显微切割并微克隆了人类15号染色体长臂上的普拉德-威利综合征染色体区域,获得了5000个重组克隆。在这些克隆中,39%鉴定出单拷贝人类DNA序列,其中大部分定位于切割的染色体区域,并且在其他物种中具有进化保守性。在详细研究的11个克隆中,有3个在几名普拉德-威利综合征患者中缺失。这些微克隆将有助于对普拉德-威利综合征染色体区域进行物理特征分析,并鉴定该疾病中受影响的基因。