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Korean Journal of Obstetrics & Gynecology 1997;40(5):1030-1036.
Published online January 1, 2001.
Diagnosis of DMD/BMD by Multiplex PCR and Southern Blot Analysis.
Sook Hwan Lee, Jung Hee Han, In Pyung Kwak, Kwang Eun Cha, Sung Won Cho, Se Yul Han, Kim Nam Keun, Chan Park, Kwang Yul Cha
1Department of obstetrics and Gynecology, College of Medicine, Pochon CHA University, Seoul, Korea.
2Department of Human GeneticsLaboratory of Infertility Medical Center of CHA General Hospital, Seoul, Korea.
3Department of Pediatrics, College of Medicine, Pochon CHA University, Seoul, Korea.
Duchene and Becker muscular dystrophy(DMD/BMD) results from mutations in thedystrophin gene, and enormous genetic locus that spans more than two million base paris ofDNA on the human X chromosome. Some 60% of DMD patients exhibit deletions, which canbe found by cDNA hybridization or, were recently, by polymerase chain reaction analysis.We have used the multiplex PCR to identify deletion mutations in the human dystrophingene. By simultaneously amplifying genomic regions flanking 17 sepastrate exons inmutational hot spots, we were able to detect 16 exons in one family. The DNA encoding eachof the 17 exons in the dystrophin gene is copied a million fold to make it visible in anagarose gel. To be certain that the missing band is not artifact of the amplificationprocedure, the DNA from the blood sample was analyzed by Southern hybridization.
Key Words: Duchenne muscular dystorphy, Becker muscular dystrophy, Dystrophin gene, multiplex PCR, cDNAhybridization
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