人类X染色体Xp21区域DNA序列的定位：寻找靠近杜氏肌营养不良症基因座的分子标记

de Martinville B, Kunkel L M, Bruns G, Morlé F, Koenig M, Mandel J L, Horwich A, Latt S A, Gusella J F, Housman D

Am J Hum Genet. 1985 Mar;37(2):235-49.

Panels of somatic cell hybrid lines carrying various structural rearrangements of the human X chromosome short arm were analyzed with 21 X-chromosome-specific cloned DNA fragments. We mapped these molecular markers to five different regions of the short arm of the X chromosome. The results were confirmed by gene-dosage studies of human lymphoblasts with structurally abnormal X chromosomes. The ornithine transcarbamylase gene and four anonymous DNA sequences map within band Xp21, flanking the presumed locus for Duchenne muscular dystrophy.

利用21个X染色体特异性克隆DNA片段对携带人类X染色体短臂各种结构重排的体细胞杂交系进行了分析。我们将这些分子标记定位到X染色体短臂的五个不同区域。通过对具有结构异常X染色体的人类淋巴母细胞进行基因剂量研究，证实了这些结果。鸟氨酸转氨甲酰酶基因和四个匿名DNA序列定位于Xp21带内，位于杜兴肌营养不良症假定基因座的两侧。