| 摘要 |
FIELD: medicine. ^ SUBSTANCE: claimed is method of postnatal DNA-diagnostics of mucoviscidosis. 14 most significant mutations 1677delTA, W1282X (R), 2143delT, G542X, R553X, G551D, 2184InsA, N1303K, 394DelTT, R334W, R347P, CFTR del21kb, delF508 in gene of mucoviscidosis CFTR are analysed. Method includes multiplex amplification of gene mutation populations in clinical sample of DNA by two-stage nested polymerase chain reaction (PCR) with application of selected set of primers. ^ EFFECT: invention makes it possible to diagnose presence of mucoviscidosis with high accuracy, due to simultaneous analysis of several mutations at a time. ^ 4 dwg, 2 tbl, 1 ex |
