Pcr/southern Blot For Duchenne/becker Muscular Dystrophy

From Anvita Health Wiki

Contents 1 Indications 2 Clinical-significance 3 Specimen 4 More General Terms 5 Additional Terms 6 References

Indications

• Duchenne muscular dystrophy
• Becker muscular dystrophy

Clinical-significance

• the majority of Duchenne muscular dystrophy is due to deletions in the dystrophin gene
• in-frame versus out-of-frame deletions are used to discriminate between Becker & Duchenne muscular dystrophies

Specimen

• whole blood ( ACD or EDTA)
• store whole blood at 4 degrees C if nucleic acids cannot be extracted immediately

More General Terms

• molecular diagnostic test

Additional Terms

• Becker muscular dystrophy
• Duchenne muscular dystrophy (pseudohypertrophic)
• dystrophin, DMD or BMD gene

References

Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed.,  W.B. Saunders, 1995

PCR/southern blot for Duchenne/Becker muscular dystrophy