caa a22 4500 467986207 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205170 doi (NATIONALLICENCE)springer-10.1007/BF00205170 Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction [Elektronische Daten] [Alan Beggs, Michel Koenig, Frederick Boyce, Louis Kunkel] Summary: We describe oligonucleotide primer sequences that can be used to amplify eight exons plus the muscle promoter of the dystrophin gene in a single multiplex polymerase chain reaction (PCR). When used in conjunction with an existing primer set, these two multiplex reactions detect about 98% of deletions in patients with Duchenne or Becker muscular dystrophy (DMD, BMD). Furthermore, these primers amplify most of the exons in the deletion prone "hot spot” region around exons 44 to 53, allowing determination of deletion endpoints and prediction of mutational effects on the translational reading frame. Thus, use of these PCR-based assays will allow deletion detection and prenatal diagnosis for most DMD/BMD patients in a fraction of the time required for Southern blot analysis. Springer-Verlag, 1990 Beggs Alan Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut Koenig Michel Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut Boyce Frederick Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut Kunkel Louis Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut Human Genetics Springer-Verlag 86/1(1990-11-01), 45-48 0340-6717 86:1<45 1990 86 439 https://doi.org/10.1007/BF00205170 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205170 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Beggs Alan Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Koenig Michel Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Boyce Frederick Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Kunkel Louis Genetics Division, Children's Hospital, Howard Hughes Medical Institute, 02115, Boston, MA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 45-48 0340-6717 86:1<45 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer