FIELD: biotechnology.
SUBSTANCE: present invention relates to biotechnology and represents a method for determining terminal mutations in BRCA1, BRCA2, ATM and PALB2 genes, using multiplex PCR technology and subsequent hybridisation with an oligonucleotide biological microchip (biochip). Invention enables determination of 23 terminal mutations: in gene BRCA2 (NM_000059.3): c.752_753insAG (p.T251fs), c. 1010_1011insTG (p.Asn337fs), c.2808_2811delACAA (p.Ala938Profs), c.5286T>G (p.Tyr1762Ter), c.5586delG (p.Val1862fs), 5722_5723delCT (p.Leu1908Argfs), c.5946delT (p.Ser1982Argfs), C.6070C>T (p.Gln2024Ter), c.6298C>T (p.Gln2100Ter), c.7879A>T (p.Ile2627Phe), c.6997_6998insT (p.Pro2334Thrfs); in gene ATM(NM_000051.3): c.5932G>T (p.Glu1978Ter); in gene PALB2 (NM_024675.3): c.172_175delTTGT (p.Gln60Argfs), 509_510delGA (p.R170Ilefs); in gene BRCA1 (NM_007294.3): c.68_69delAG (p.Glu23Valfs), c.181T>G (p.Cys61Gly), c.5266dup (p.Gln1756Profs*74), c.3700_3704delGTAAA (p.Val1234Glnfs), c.3756_3759delGTCT (p.Ser1253Argfs), c.4035delA (p.Glu1346Lysfs), c.5161C>T (p.Gln1721Ter), c.5251C>T (p.Arg1751Ter), c.1961delA (p.Lys654Serfs). Diagnosis of mutations enables to establish with certain probability of effectiveness and feasibility of treating patients with platinum preparations and PARB-inhibitors.
EFFECT: invention allows performing analysis in a short time and with little material costs.
3 cl, 2 dwg, 2 ex
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