Weremowicz S, Fox E A, Morton C C, Vallee B L
Center for Biochemical and Biophysical Sciences and Medicine, Harvard Medical School, Boston, MA.
Am J Hum Genet. 1990 Dec;47(6):973-81.
The gene encoding angiogenin, a potent inducer of blood vessel formation, has been localized within the human genome. It is present as a single copy per haploid genome and is located on chromosome 14, on the basis of discordancy analysis of human-rodent hybrid cell lines. This localization was refined to 14q11 by in situ hybridization of an angiogenin probe to metaphase chromosomes prepared from both normal human lymphocytes and RPMI 8402 cells. The results from the RPMI 8402 cells also establish that the angiogenin gene resides proximal to a translocation breakpoint within the T cell receptor alpha/delta locus and therefore upstream from that locus. An AvaII RFLP, present at a frequency of 29% in an unselected collection of human placental DNAs, was identified in the coding region of the gene and results from a single silent transversion.
编码血管生成素(一种强大的血管形成诱导剂)的基因已定位在人类基因组中。根据人-鼠杂交细胞系的不一致性分析,它在单倍体基因组中以单拷贝形式存在,位于14号染色体上。通过将血管生成素探针与由正常人淋巴细胞和RPMI 8402细胞制备的中期染色体进行原位杂交,该定位被精确到14q11。来自RPMI 8402细胞的结果还表明,血管生成素基因位于T细胞受体α/δ基因座内一个易位断点的近端,因此在该基因座的上游。在该基因的编码区发现了一种AvaII限制性片段长度多态性(RFLP),在未选择的人类胎盘DNA集合中出现频率为29%,它由单个沉默颠换产生。