Youngman S, Bates G P, Williams S, McClatchey A I, Baxendale S, Sedlacek Z, Altherr M, Wasmuth J J, MacDonald M E, Gusella J F
Genome Analysis Laboratory, Imperial Cancer Research Fund, Lincoln's Inn Fields, London, United Kingdom.
Genomics. 1992 Oct;14(2):350-6. doi: 10.1016/s0888-7543(05)80225-3.
A telomere YAC clone containing the most distal 115 kb of chromosome arm 4p has been previously isolated. This clone is of particular interest as it spans a potential candidate region for the Huntington disease gene. The YAC was subcloned into a phage vector, and a high-resolution restriction map extending to within 13 kb of the telomere was constructed. In situ hybridization of the YAC to human metaphase spreads gives a peak of hybridization on 4pter but also an increase in the number of signals close to several other telomeres. Where possible, these results were investigated further by the hybridization of probes from the YAC to somatic cell hybrids containing single human chromosomes. This analysis indicates that the most telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. The extent of this homology makes it less likely that the mutation for Huntington's disease is located within the telomere YAC clone.
先前已分离出一个端粒酵母人工染色体(YAC)克隆,它包含4号染色体短臂最远端的115 kb。该克隆特别令人感兴趣,因为它跨越了亨廷顿舞蹈病基因的一个潜在候选区域。将该YAC亚克隆到噬菌体载体中,并构建了一个延伸至端粒13 kb范围内的高分辨率限制性图谱。将该YAC与人类中期染色体铺展进行原位杂交,在4pter处出现杂交峰,但在其他几个端粒附近的信号数量也增加。在可能的情况下,通过将来自YAC的探针与含有单个人类染色体的体细胞杂种进行杂交,对这些结果进行了进一步研究。该分析表明,4号染色体短臂最末端的60 kb与13号染色体短臂、15号染色体短臂、21号染色体短臂和22号染色体短臂上的端粒区域同源。这种同源性程度使得亨廷顿舞蹈病的突变位于端粒YAC克隆内的可能性降低。