METHOD FOR DIAGNOSTICS OF NEURONAL CEROID LIPOFUSCINOSIS TYPE 6 Russian patent published in 2022 - IPC G01N33/50 C12Q1/6806 C12Q1/6827 C12Q1/686 C12Q1/6876 

FIELD: medicine; laboratory diagnostics.

SUBSTANCE: invention relates to medicine, namely to laboratory diagnostics; it can be used for diagnostics of carrying a mutant CLN6 gene with c.396dupT (p.Val133CysfsTer18) mutation, leading to neuronal ceroid lipofuscinosis type 6 with an autosomal recessive type of inheritance in the Yakut population. DNA is isolated from leukocytes of peripheral blood. Molecular-genetic analysis is carried out by means of a polymerase chain reaction, using F- GACAGTGCCCTCACCTAGC; R- CTGGCCTGCTAAAGGGACC primers, and polymorphism of lengths of restriction fragments is analyzed. With the length of fragments of 469 p.n., carrying a mutant gene in a homozygous state is diagnosed. With the length of fragments of 469, 224, and 245 p.n., carrying a mutant gene in a heterozygous state is diagnosed. With the length of fragments of 224 and 245 p.n., a normal gene is diagnosed.

EFFECT: method allows for fast and accurate diagnostics of neuronal ceroid lipofuscinosis type 6 in patients and their relatives in burdened families due to determination of the presence or the absence of heterozygous or homozygous c.396dupT (p.Val133CysfsTer18) mutation in exon 4 of CLN6 gene.

1 cl, 3 dwg, 1 ex