types of mutations

Since just about all types of mutations can be seen in
DMD/BMD cases, a variety of techniques need to be used to
carry out a comprehensive molecular analysis. A multiplex PCR
approach in which a number of segments of the gene are
amplified simultaneously has been developed to rapidly detect
deletion of exons in males. Fluorescent dosage analysis can be
used to detect deletions and duplications in both affected males
and female carriers and chromosomal analysis using fluorescence
in situ hybridisation (FISH) techniques will also detect deletions
in female carriers. Detecting point mutations is possible with a
variety of methods including SSCP analysis, DGGE analysis, and
DNA sequencing but is not routine because of the very large
number of exons in the gene. In cases where the underlying
mutation is unknown, carrier detection and prenatal diagnosis
may still be accomplished by linkage analysis with a combination
of intragenic DNA markers and markers flanking the gene.