91.
(11) Patent number: 2151188
(46) Date of publication: 20.06.2000
(51) Int. Cl.7: C 12 Q 1/68, C 12 N 15/11, G 01 N 33/48
(21) Application number: 99112665/13
(22) Application date: 16.06.1999
(71) Applicant:
Institut tsitologii i genetiki SO RAN,
Nauchno-issledovatel'skij institut terapii SO RAMN
(72) Inventor:
Judin N.S.,
Voevoda M.I.,
Kobzev V.F.,
Romashchenko A.G.
(73) Proprietor:
Romashchenko Aida Gerasimovna,
Judin Nikolaj Serafimovich
(98) Mail address:
630090, g.Novosibirsk, pr. Lavrent'eva 10, ITsiG SO RAN, patentnyj otdel, Kuchumovoj L.Ja
(54) METHOD OF MUCOVISCIDOSIS DIAGNOSIS
(57)
FIELD: medicine, molecular biology. SUBSTANCE: proposed method involves isolation of genome DNA from 5-10 ml of peripheral blood by conventional procedure using proteinase K followed by extraction with mixture phenol/chloroform. For amplification of normal allele direct primer is used: 5'-GGCAC-CATTA-AAGAA-AATAT-CATCTT-3' terminating at 3'-end by trinucleotide CTT that is absent in mutant allele. For amplification of allele with deletion direct primer is used: 5'-GGCAC-CATTA-AAGAA-AATAT-CATTG-G-3' without CTT and terminating by the next trinucleotide TGG at 3'-end. As reverse primer for amplification of both alleles primer is used: 5'-CATTC-ACAGT-AGCTT-ACCCA-3'. EFFECT: simplified, precise method, enhanced safety of diagnosis. 2 cl, 1 dwg, 2 ex
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