Nigro J M, Schweinfest C W, Rajkovic A, Pavlovic J, Jamal S, Dottin R P, Hart J T, Kamarck M E, Rae P M, Carty M D
Am J Hum Genet. 1987 Feb;40(2):115-25.
We describe the first isolation of a human creatine kinase M cDNA clone and its mapping of the gene to human chromosome 19. A human creatine kinase M cDNA clone, pJN2CK-M, harboring a 1,160-bp insert, was isolated by colony hybridization with a previously sequenced chicken creatine kinase M cDNA probe. The human cDNA was used as a probe in Southern transfers of TaqI-digested genomic DNA from mouse/human somatic-cell hybrids to localize the human creatine kinase-M gene to chromosome 19. In situ hybridization of the tritiated cDNA probe to metaphase chromosomes of peripheral blood lymphocytes from normal males revealed significant labeling to chromosome 19. These two independent methodologies assign the human creatine kinase-M gene to chromosome 19. Since greater than 69% of the grains of chromosome 19 label band q13, the human creatine kinase-M gene has been mapped to 19q13. On the basis of high-resolution G-banding, the predominant labeling site was 19q13.2-q13.3.
我们描述了人类肌酸激酶M cDNA克隆的首次分离及其基因在人类19号染色体上的定位。通过与先前测序的鸡肌酸激酶M cDNA探针进行菌落杂交，分离出一个含有1160个碱基对插入片段的人类肌酸激酶M cDNA克隆pJN2CK-M。将该人类cDNA用作探针，对来自小鼠/人类体细胞杂种的经TaqI消化的基因组DNA进行Southern印迹转移，以将人类肌酸激酶M基因定位到19号染色体上。用氚标记的cDNA探针与正常男性外周血淋巴细胞中期染色体进行原位杂交，结果显示19号染色体有明显的标记。这两种独立的方法将人类肌酸激酶M基因定位于19号染色体。由于19号染色体上超过69%的银粒标记带为q13，因此人类肌酸激酶M基因已被定位到19q13。基于高分辨率G显带，主要标记位点为19q13.2 - q13.3。
