Nelson D L, Ballabio A, Victoria M F, Pieretti M, Bies R D, Gibbs R A, Maley J A, Chinault A C, Webster T D, Caskey C T
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Proc Natl Acad Sci U S A. 1991 Jul 15;88(14):6157-61. doi: 10.1073/pnas.88.14.6157.
Over 400 yeast artificial chromosome (YAC) clones were isolated from the human X chromosome, and 110 of these were assigned to regions defined by chromosome translocation and deletion breakpoints. Polymerase chain reaction using Alu primers was applied to YAC clones in order to generate probes, to identify overlapping clones, and to derive "fingerprints" and sequence data directly from total yeast DNA. Several clones were identified in regions of medical interest. One set of three overlapping clones was found to cross a chromosomal translocation implicated in Lowe syndrome. The regional assignment of groups of YAC clones provides initiation points for further attempts to develop large cloned contiguous sequences, as well as material for investigation of regions involved in genetic diseases.
从人类X染色体中分离出400多个酵母人工染色体（YAC）克隆，其中110个被定位到由染色体易位和缺失断点所界定的区域。使用Alu引物的聚合酶链反应应用于YAC克隆，以便生成探针、识别重叠克隆，并直接从酵母总DNA中获得“指纹”和序列数据。在医学相关区域鉴定出了几个克隆。发现一组三个重叠克隆跨越了与劳氏综合征相关的染色体易位。YAC克隆组的区域定位为进一步尝试构建大的连续克隆序列提供了起始点，也为研究涉及遗传疾病的区域提供了材料。
