Worton R G, Duff C, Sylvester J E, Schmickel R D, Willard H F
Science. 1984 Jun 29;224(4656):1447-9. doi: 10.1126/science.6729462.
Duchenne muscular dystrophy (DMD) is a severe X-linked disorder leading to early death of affected males. Females with the disease are rare, but seven are known to be affected because of a chromosomal rearrangement involving a site at or near the dmd gene on the X chromosome. One of the seven has a translocation between the X and chromosome 21. The translocation-derived chromosomes from this patient have been isolated, and the translocation is shown to have split the block of genes encoding ribosomal RNA on the short arm of chromosome 21. Thus ribosomal RNA gene probes may be used to identify a junction fragment from the translocation site, allowing access to cloned segments of the X at or near the dmd gene and presenting a new approach to the study of this disease.
杜兴氏肌肉营养不良症（DMD）是一种严重的X连锁疾病，会导致受影响的男性过早死亡。患有这种疾病的女性很少见，但已知有7名女性因涉及X染色体上dmd基因或其附近位点的染色体重排而患病。这7名患者中有1名的X染色体与21号染色体之间发生了易位。已分离出该患者的易位衍生染色体，结果显示该易位已将21号染色体短臂上编码核糖体RNA的基因块分开。因此，核糖体RNA基因探针可用于识别来自易位位点的连接片段，从而获取dmd基因或其附近X染色体的克隆片段，为研究这种疾病提供了一种新方法。
