[Molecular diagnosis of Duchenne and Becker muscular dystrophies. Current data].
Carrier diagnosis and prenatal diagnosis of Duchenne's muscular dystrophy (DMD) and Becker's muscular dystrophy (BMD) has become possible using some twenty RFLPs detected by more than a dozen Xp21 probes that are either intragenic or flanking the disease locus. Results from familial studies on 88 DMD and BM families stress important considerations concerning a priori and final risks, individuals necessary for the identification of the phase, and the different strategies that can be applied, regardless of whether the study concerns an on-going pregnancy or a carrier-status determination, and whether the patient is at high or low risk. Finally, multiple sources of difficulties in interpreting the results depend on a) the occurrence of new mutations that must be traced; b) the existence of meiotic recombination; c) the necessity, in some instances, of relying upon the sole identification of the paternal X. These considerations emphasize the characteristics and the important limitations of this type of methodology.
D003402:Creatine Kinase / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012984:Software
D003402:Creatine Kinase
Diagnostic moléculaire des myopathies de Duchenne et de Becker. Données actuelles.