Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.
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.
D000328:Adult; D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000032:analysis / Q000196:embryology; D009136:Muscular Dystrophies / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D012333:RNA, Messenger / Q000235:genetics*; D013045:Species Specificity; D014178:Translocation, Genetic; D014960:X Chromosome
D012333:RNA, Messenger