Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frédéric J, Thompson M W, Markovic V D, Worton R G
Hum Genet. 1984;67(1):115-9. doi: 10.1007/BF00270570.
A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine autoradiography and the BrdU-Hoechst 33258-Giemsa technique, lymphocytes and fibroblasts were found to show a preferential inactivation of the normal X suggesting the presence of a single mutant gene on the translocated X. This patient is one of seven reported cases of an X-linked muscular dystrophy associated with an X-autosome translocation. In all seven cases the exchange point in the X chromosome is in band p21 at or near the site of the Duchenne gene.
一名年轻女性被诊断患有杜氏型X连锁肌营养不良症。染色体研究，包括胰蛋白酶-吉姆萨显带、喹吖因荧光和核仁组织区（NOR）银染，显示存在X-常染色体相互易位t(X;21) (p21;p12)。利用[3H]胸腺嘧啶核苷放射自显影术和BrdU- Hoechst 33258-吉姆萨技术，发现淋巴细胞和成纤维细胞中正常X染色体优先失活，提示易位的X染色体上存在单个突变基因。该患者是报道的7例与X-常染色体易位相关的X连锁肌营养不良症病例之一。在所有7例病例中，X染色体的交换点位于杜氏基因位点或其附近的p21带。
