FIELD: medicine.
SUBSTANCE: invention relates to the field of medicine, in particular to medical genetics and ophthalmology, and is intended for DNA diagnosis of congenital cataract form. Peripheral blood is extracted from the DNA. Amplification of DNA fragments using specific pairs of oligonucleotide primers is performed and processing of the resulting amplifications with PstI restriction endonuclease followed by detection of the mutation c.1621C>T (p.Gln541Ter) FYCO1 gene by agarose gel electrophoresis.
EFFECT: invention provides high accuracy in diagnosis of congenital cataract form (CTRCT18).
1 cl, 3 dwg, 1 tbl, 5 ex
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