[Gene diagnosis in child neurology].
Current status of molecular analysis in child neurology was briefly reviewed. Two different methods are available for gene diagnosis of inherited neurological diseases; molecular analysis of the mutant gene itself, which detects single base substitutions, deletions and insertions; and linkage analysis using restriction fragment length polymorphism, which can be applied also to various neurogenetic diseases without information about mutant genes. The PCR amplification method is particularly important and useful for molecular analysis of clinical specimens. A few analytical results were presented in cases with Fabry disease, galactosialidosis and Duchenne muscular dystrophy.
Suzuki
Y
Y
Tokyo Metropolitan Institute of Medical Science.
D002648:Child; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics; D005784:Gene Amplification; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length