Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.

ABSTRACT:

Context

Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders.

Aim

To study the utility of MLPA in diagnosis and carrier detection for DMD.

Materials and methods

Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared.

Results and conclusions

We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present st

SUBMITTER: Verma PK 

PROVIDER: S-EPMC3385188 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature