Boyd Y, Cockburn D, Holt S, Munro E, Van Ommen G J, Gillard B, Affara N, Ferguson-Smith M, Craig I
Genetics Laboratory, Department of Biochemistry, Oxford, UK.
Cytogenet Cell Genet. 1988;48(1):28-34. doi: 10.1159/000132581.
Over 20 females have been reported to carry reciprocal X; autosome translocations with breakpoints in Xp21 and to suffer from Duchenne muscular dystrophy (DMD). We have positioned nine of these breakpoints with respect to the Duchenne gene by mapping probes from the DMD region against a panel of somatic cell hybrids, each containing one of the translocation chromosomes from a different female patient; further information has also been obtained by in situ hybridization, including the breakpoint location in a tenth DMD patient. We have also characterized two translocation breakpoints that lie in the same chromosomal region but which are not associated with the expression of DMD. All the DMD-associated translocation breakpoints examined lie at several sites within the DMD locus and between the two non-DMD breakpoints.
据报道，超过20名女性携带X染色体与常染色体的相互易位，断点位于Xp21，她们患有杜氏肌营养不良症（DMD）。我们通过将来自DMD区域的探针与一组体细胞杂种进行杂交，确定了其中9个断点相对于杜氏基因的位置，每个体细胞杂种包含来自不同女性患者的一条易位染色体；还通过原位杂交获得了更多信息，包括第十名DMD患者的断点位置。我们还对位于同一染色体区域但与DMD表达无关的两个易位断点进行了特征分析。所有检测到的与DMD相关的易位断点都位于DMD基因座内的几个位点以及两个非DMD断点之间。
