Diagnostics muscular dystrophies

RFLPs are often a reflection of individual genetic diversity and are not related to a clinical phenotype, but occasionally they can be diagnostic of an inherited disease. This technique is relatively new yet, it has been applied to the prenatal detection of sickle cell anemia, thalassemia, phenylketonuria, a,-antitrypsin deficiency, Huntington s chorea, Duchenne muscular dystrophy, hemophilia A and B, cystic fibrosis, and several other, diseases. 

Duchenne and Becker Muscular Dystrophy Current Diagnostics. 55... 

Molecular diagnostics approaches to carrier status for Duchenne muscular dystrophy are based on the discovery of the presence of a deletion in the gene for dystrophin. Sometimes, the testing approach provides a probability or likelihood estimate of an individual being a carrier (e.g., the use of indirect or linkage analysis for DMD when a deletion is not detectable), rather than clear documen-... 

Chan, A., Coupling different molecular techniques onto a porous microarray for diagnostic applications Detection of deletions and duplications in Duch-enne muscular dystrophy (DMD) using multiplexed amplifiable probe hybridization (MAPH) on PamChip , First International Conference on Microarrays for Diagnostics, San Diego, CA, March 21-22, 2002. 

Ferrance J, Snow K, Landers JP. Evaluation of microchip electrophoresis as a molecular diagnostic method for Duchenne muscular dystrophy. Clin Chem 2002 48 380-383. 

The urine of dystrophic patients was reported in 1949 by Minot et al. (Mil) to contain quantities of organic ribose phosphate esters, which could be detected for diagnostic purposes by a modified qualitative Benedict s test (03). Walton and Latner (W5), however, found this proposed test to have no diagnostic value. Determined and thorough biochemical investigations in large numbers of patients with all types of muscular dystrophy (Pll, RIO) have since shown that any difference... 

Of animal and human organs, skeletal muscle has the highest aldolase activity, 5 times that in brain, liver and heart muscle. For this reason the determination of aldolase in the serum is of diagnostic value in muscle diseases such as myoglobinuria, or progressive muscular dystrophy. 

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