[Clinical molecular-genetics for endocrine and metabolic diseases].
Recently developed methods for the DNA-based diagnosis of endocrine and metabolic diseases, particularly genetic diseases, were reviewed. The molecular-diagnostic methods for a base substitution include the direct sequencing of a mutant gene, detection of a newly made RFLP site, the oligonucleotide method, the segregation analysis with RFLPs based on the linkage between and RFLP-allele and a disease locus, and the DNA/RNA mismatch method. Several examples of families with genetic diseases in which the diagnosis was successfully made are presented. Another gene mutation is a gene deletion. To detect such a deletion, the Southern hybridization method is useful. Several families with a disease, especially those with Duchenne muscular dystrophy, in which the diagnosis with deletion study was successful are presented. Finally, the method of prenatal diagnosis with the DNA technique was reviewed.
Niikawa
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D015139:Blotting, Southern; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D004700:Endocrine System Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008659:Metabolic Diseases / Q000175:diagnosis / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods
D004247:DNA