ABSTRACT
The efficacy of two intragenic polymorphic markers of factor VIII gene has been examined in Andhra Pradesh population with a view to confirm/revise the strategy for carrier detection that would be precise and economical. The haemophilia A carrier was detected using Bcl I and Xba I polymorphic sites in intron 18 and 22 respectively. The cumulative efficiency of these two sites for detection of carriers is 100% since all 15 families tested were informative for one of these polymorphisms, thus confirming their usefulness for factor VIII gene mutations found in Andhra Pradesh.
ABSTRACT
Poly A RNA status and itsin vitro translation in a rabbit reticulolysate cell free system, were assessed in the skeletal muscle of young boys with Duchenne muscular dystrophy. Compared to normals there is a significant 48% increase in poly A RNA content of dystrophic muscle and its translatability was increased by 56% based on(35)S methionine incorporation into total protein systhesised. Immunoprecipitation of the translated products with monospecific antibodies showed that there is a 2.6 fold and a 2 fold increase in m and µ calpains respectively. This underlines the importance of both synthetic and degenerative activities in the early pathology in DMD muscle.
