Pcr/southern Blot For Myotonic Dystrophy

From Anvita Health Wiki

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

Indications

• myotonic dystrophy

Clinical-significance

• expansion of the trinucleotide repeat CTG within the myotonin protein kinase gene is the most common mutation associated with myotonic dystrophy
• the mutant allele, when inherited from the mother is associated with an early age of onset ( congenital form)

Specimen

• whole blood ( ACD or EDTA)
• tissue
• store whole blood at 4 degrees C
• store tissue at -20 degrees C or below if nucleic acids cannot be extracted immediately

More General Terms

• molecular diagnostic test

Additional Terms

• myotonic dystrophy (Steinert disease)
• myotonin protein kinase gene or myotonic dystrophy-1

References

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

PCR/southern blot for myotonic dystrophy