[DNA diagnosis for inherited metabolic disorders].
Progress in molecular genetics has made it possible to detect the structure of cDNA and genomic DNA of enzyme and protein, as well as the mutation in DNA level. It also provides a vast amount of new information for diagnosis and treatment, and it can actually be used in prenatal diagnosis and carrier screening. There is great hope that patients with genetic disorders can be treated by somatic gene replacement. We introduced here the methods for detection of unknown mutations of inherited metabolic disorders, and screening patients for characterized mutations, and the expression analysis of mutant cDNA, as an example of phenylketonuria.
Okano
Y
Y
Department of Pediatrics, Osaka City University Medical School.
Oura
T
T
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis*; D005260:Female; D006801:Humans; D009693:Nucleic Acid Hybridization; D010661:Phenylketonurias / Q000175:diagnosis / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016415:Sequence Alignment
D004247:DNA