[Comprehensive analysis of changes in critical chromosomal regions and the development of DNA-diagnosis protocols].
A number of genetic syndromes and cancer are caused by chromosomal microstructural rearrangements. It is sometimes impossible to detect this pathology microscopically. A complex of molecular methods makes it possible to detect subchromosomal deletions, point mutations, and functional anomalies on the respective genes, which cause a disease. Achievements of comprehensive analysis have been demonstrated in cases of some well-known diseases, the Prader-Willi syndrome, Engelmann's syndrome, the Martin-Bell syndrome, hereditary multiple exostotic chondrodysplasia, and retinoblastoma. DNA-diagnosis protocols are the result of this study.
Zaletaev
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Nemtsova
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D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure; D002884:Chromosomes, Human, Pair 15 / Q000648:ultrastructure; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*