Love D R, Bloomfield J F, Kenwrick S J, Yates J R, Davies K E
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Genomics. 1990 Sep;8(1):106-12. doi: 10.1016/0888-7543(90)90231-i.
We report a new locus, designated JC-1, which maps between the gene responsible for adrenal hypoplasia (AHC) and the gene that encodes glycerol kinase (GK) in Xp21.2-21.3. The probe identifying this locus was obtained by cloning the distal sequence of a junction fragment from a Duchenne muscular dystrophy (DMD) patient with a large deletion. Pulsed-field gel electrophoresis analysis shows that a region of at least 4 Mb separates the 3' end of the dystrophin gene and the closest distal marker to AHC, DXS28. This region of the human genome contains few genes whose deletion results in a clinical phenotype. JC-1 is a useful probe from which to initiate strategies directed at cloning the AHC and GK loci.
我们报道了一个新的基因座，命名为JC-1，它定位于Xp21.2-21.3区域，位于负责肾上腺发育不全（AHC）的基因与编码甘油激酶（GK）的基因之间。通过克隆一名患有大片段缺失的杜氏肌营养不良（DMD）患者的连接片段的远端序列，获得了鉴定该基因座的探针。脉冲场凝胶电泳分析表明，至少4 Mb的区域将肌营养不良蛋白基因的3'端与距离AHC最近的远端标记DXS28分隔开。人类基因组的这一区域包含很少因缺失而导致临床表型的基因。JC-1是一个有用的探针，可用于启动针对克隆AHC和GK基因座的策略。
