杜兴氏肌肉营养不良症患者中缺失的保守序列的分离。
Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.
作者信息
Smith T J, Wilson L, Kenwrick S J, Forrest S M, Speer A, Coutelle C, Davies K E
出版信息
Nucleic Acids Res. 1987 Mar 11;15(5):2167-74. doi: 10.1093/nar/15.5.2167.
We have isolated a DNA sequence (HIP25) by subtraction- hybridisation which is deleted in a number of Duchenne muscular dystrophy (DMD) patients. HIP25 is conserved in evolution and hybridises to human fetal and adult muscle mRNA. HIP25 is absent in human fetal fibroblast mRNA. Physical mapping data localise this sequence within Xp21 between the breakpoints of X;autosome translocations found in two females suffering from the disease. HIP25 is a candidate exon sequence for the basic defect in DMD boys deleted at this locus.
我们通过消减杂交分离出一个DNA序列（HIP25），该序列在许多杜兴氏肌营养不良症（DMD）患者中缺失。HIP25在进化过程中保守，并且能与人胎儿及成人肌肉的mRNA杂交。人胎儿成纤维细胞mRNA中不存在HIP25。物理图谱数据将该序列定位在Xp21中，位于两名患该疾病女性患者中发现的X；常染色体易位断点之间。HIP25是在此位点缺失的DMD男孩基本缺陷的候选外显子序列。
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