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KMID : 0358419970400051030
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Korean Journal of Obstetrics and Gynecology
1997 Volume.40 No. 5 p.1030 ~ p.1036
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Diagnosis of DMD/BMD by Multiplex PCR and Southern Blot Analysis
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이숙환
한정희 곽인평/차광은/조성원/한세열/김남근/박찬/차광열
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Abstract
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Duchene and Becker muscular dystrophy(DMD/BMD) results from mutations in the dystrophin gene, an enormous genetic locus that spans more than two million base paris of DNA on the human X chromosome. Some 60% of DMD patients exhibit deletions,
which
can
be 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 dystrophin gene. By simultaneously amplifying genomic regions flanking 17 sepasrate exons in mutational hot spots, we were able to detect 16 exons in one family. The DNA
encoding
each of the 17 exons in the dystrophin gene is copied a million fold to make it visible in an agarose gel. To be certain that the missing band is not artifact of the amplification procedure, the DNA from the blood sample was analyzed by Southern
hybridization.
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