Jhanwar S C, Berkvens T M, Breukel C, van Ormondt H, van der Eb A J, Meera Khan P
Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, NY 10021.
Cytogenet Cell Genet. 1989;50(2-3):168-71. doi: 10.1159/000132752.
The gene for human adenosine deaminase (ADA), an enzyme constitutively expressed in all tissues investigated so far and deficient in some cases of severe combined immune deficiency, was previously assigned to chromosome 20 by syntenic analysis, using somatic cell hybrids and quantitative enzyme studies on patients with chromosome abnormalities. Attempts at regional localization of ADA through indirect approaches have so far resulted in uncertainties, as well as apparent inconsistencies. In situ hybridization of high-resolution somatic and pachytene chromosomes using a 3H-labeled cDNA probe of the ADA gene localized the gene to 20q12----q13.11. Rearrangements involving this region have been reported in various human hematological malignancies; in this regard, possible implications of the physical proximity of the ADA gene locus to that of SRC, an oncogene previously localized to the same region of chromosome 20, are briefly discussed.
人类腺苷脱氨酶(ADA)基因在迄今所研究的所有组织中均有组成性表达,在某些严重联合免疫缺陷病例中该基因存在缺陷。此前通过同线分析,利用体细胞杂种以及对染色体异常患者进行的定量酶研究,已将该基因定位于20号染色体。通过间接方法对ADA进行区域定位的尝试迄今导致了不确定性以及明显的不一致性。使用ADA基因的3H标记cDNA探针,对高分辨率体细胞和粗线期染色体进行原位杂交,将该基因定位于20q12----q13.11。在各种人类血液系统恶性肿瘤中均已报道涉及该区域的重排;就此简要讨论了ADA基因座与SRC(一种先前定位于20号染色体同一区域的癌基因)在物理位置上接近的可能影响。